Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Search Result


Gene id 2
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol A2M   Gene   UCSC   Ensembl
Aliases A2MD, CPAMD5, FWP007, S863-7
Gene name alpha-2-macroglobulin
Alternate names alpha-2-macroglobulin, C3 and PZP-like alpha-2-macroglobulin domain-containing protein 5, alpha-2-M,
Gene location 12p13.31 (9115961: 9067707)     Exons: 36     NC_000012.12
Gene summary(Entrez) The protein encoded by this gene is a protease inhibitor and cytokine transporter. It uses a bait-and-trap mechanism to inhibit a broad spectrum of proteases, including trypsin, thrombin and collagenase. It can also inhibit inflammatory cytokines, and it thus disrupts inflammatory cascades. Mutations in this gene are a cause of alpha-2-macroglobulin deficiency. This gene is implicated in Alzheimer's disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. A related pseudogene, which is also located on the p arm of chromosome 12, has been identified. [provided by RefSeq, Nov 2016]
OMIM 103950

SNPs

rs1801133

Strand:    Allele origin: T(germline)/C(germline)   Allele change: C/T   Mutation type: snp

CM000663.2   g.11796321G>A
NC_000001.10   g.11856378G>A
NC_000001.11   g.11796321G>A
NG_013351.1   g.14783C>T
NM_001330358.1   c.788C>T
NM_005957.4   c.665C>T
NP_001317287.1   p.Ala263Val
NP_005948.3   p.Ala222Val
XP_005263515.1   p.Ala263Val
XP_005263516.1   p.Ala245Val
XP_005263517.1   p.Ala222Val
XP_005263518.1   p.Ala222Val
XP_005263519.1   p.Ala222Val
XP_005263520.1   p.Ala140Val
XP_011539797.1   p.Ala262Val
XP_011539798.1   p.Ala263Val
XP_016856817.1   p.Ala263Val
Clinical Significance: drug-response drug-response drug-response

rs10835638

Strand:    Allele origin: G(germline)/T(germline,somatic)   Allele change: A/G/T   Mutation type: snp

CM000673.2   g.30230805G>A
CM000673.2   g.30230805G>T
NC_000011.10   g.30230805G>A
NC_000011.10   g.30230805G>T
NC_000011.9   g.30252352G>T
NG_008144.1   g.4790G>A
NG_008144.1   g.4790G>T
NM_000510.2   c.-280G>A
NM_000510.2   c.-280G>T
NM_001018080.1   c.-250G>A
NM_001018080.1   c.-250G>T
XR_931152.2   n.463+86085C>A
XR_931152.2   n.463+86085C>T
Clinical Significance: other

rs1042839

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000673.2   g.101051471G>A
NC_000011.10   g.101051471G>A
NC_000011.9   g.100922202G>A
NG_016475.1   g.83343C>T
NM_000926.4   c.2310C>T
NM_001202474.3   c.1818C>T
NM_001271161.2   c.1512C>T
NM_001271162.1   c.528C>T
NP_000917.3   p.His770=
NP_001189403.1   p.His606=
NP_001258090.1   p.His504=
NP_001258091.1   p.His176=
NR_073141.2   n.2303C>T
NR_073142.2   n.2186C>T
NR_073143.2   n.1997C>T
XP_006718921.1   p.His770=
rs10757269

Strand:    Allele origin:   Allele change: A/C/G   Mutation type: snp

CM000671.2   g.22072265A>C
CM000671.2   g.22072265A>G
NC_000009.11   g.22072264A>G
NC_000009.12   g.22072265A>C
NC_000009.12   g.22072265A>G
NR_003529.3   n.2448+5912A>C
NR_003529.3   n.2448+5912A>G
NR_047532.1   n.1075+15878A>C
NR_047532.1   n.1075+15878A>G
NR_047533.1   n.645-5414A>C
NR_047533.1   n.645-5414A>G
NR_047534.1   n.644+23037A>C
NR_047534.1   n.644+23037A>G
NR_047535.1   n.780+15878A>C
NR_047535.1   n.780+15878A>G
NR_047536.1   n.644+23037A>C
NR_047536.1   n.644+23037A>G
NR_047537.1   n.780+15878A>C
NR_047537.1   n.780+15878A>G
NR_047538.1   n.644+23037A>C
NR_047538.1   n.644+23037A>G
NR_047539.1   n.2449-5414A>C
NR_047539.1   n.2449-5414A>G
NR_047540.1   n.1049-5414A>C
NR_047540.1   n.1049-5414A>G
NR_047541.1   n.856-5414A>C
NR_047541.1   n.856-5414A>G
NR_047542.1   n.781-5414A>C
NR_047542.1   n.781-5414A>G
NR_047543.1   n.780+15878A>C
NR_047543.1   n.780+15878A>G
NR_120536.1   n.644+23037A>C
NR_120536.1   n.644+23037A>G
rs10757272

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000671.2   g.22088261C>T
NC_000009.11   g.22088260C>T
NC_000009.12   g.22088261C>T
NR_003529.3   n.2449-8111C>T
NR_047532.1   n.1076-4047C>T
NR_047534.1   n.645-8997C>T
NR_047535.1   n.781-24059C>T
NR_047536.1   n.645-24059C>T
NR_047537.1   n.780+31874C>T
NR_047538.1   n.645-31939C>T
NR_047543.1   n.781-24059C>T
NR_120536.1   n.645-32243C>T
rs10965215

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000671.2   g.22029446G>A
NC_000009.11   g.22029445G>A
NC_000009.12   g.22029446G>A
NR_003529.3   n.385G>A
NR_047532.1   n.385G>A
NR_047533.1   n.372-17305G>A
NR_047534.1   n.372-17305G>A
NR_047535.1   n.372-17305G>A
NR_047536.1   n.372-17305G>A
NR_047537.1   n.372-17305G>A
NR_047538.1   n.372-17305G>A
NR_047539.1   n.385G>A
NR_047540.1   n.372-17305G>A
NR_047541.1   n.372-17305G>A
NR_047542.1   n.372-17305G>A
NR_047543.1   n.372-17305G>A
NR_120536.1   n.372-17305G>A
rs10965235

Strand:    Allele origin:   Allele change: A/C   Mutation type: snp

CM000671.2   g.22115106C>A
NC_000009.11   g.22115105C>A
NC_000009.12   g.22115106C>A
NR_003529.3   n.2908+1307C>A
NR_047532.1   n.1697+1307C>A
NR_047534.1   n.961+1307C>A
NR_047535.1   n.856+2711C>A
NR_047536.1   n.720+2711C>A
NR_047537.1   n.781-5094C>A
NR_047538.1   n.645-5094C>A
NR_047543.1   n.990+1307C>A
NR_120536.1   n.645-5398C>A
rs11202597

Strand:    Allele origin:   Allele change: A/T   Mutation type: snp

CM000672.2   g.87905433A>T
NC_000010.10   g.89665190A>C
NC_000010.10   g.89665190A>T
NC_000010.11   g.87905433A>T
NG_007466.2   g.46995A>C
NG_007466.2   g.46995A>T
NM_000314.4   c.164+11324A>C
NM_000314.4   c.164+11324A>T
NM_000314.6   c.164+11324A>C
NM_000314.6   c.164+11324A>T
NM_001304717.2   c.683+11324A>C
NM_001304717.2   c.683+11324A>T
NM_001304718.1   c.-542+11324A>C
NM_001304718.1   c.-542+11324A>T
NW_013171807.1   g.121257A>T
rs7041

Strand: -   Allele origin: germline,germline  Allele change: G/T   Mutation type: snp

  
XM_006714177.2   c.1262+1794T>G
NP_000574.2   p.Asp432Glu
NP_001191235.1   p.Asp432Glu
NP_001191236.1   p.Asp451Glu
NG_012837.2   g.57904T>G
NM_000583.3   c.1296T>G
NM_001204306.1   c.1296T>G
NM_001204307.1   c.1353T>G
NC_000004.11   g.72618334A>C
NC_000004.12   g.71752617A
Clinical Significance: Benign

rs11264799

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000663.2   g.157700967C>T
NC_000001.10   g.157670757C>T
NC_000001.11   g.157700967C>T
NG_023241.1   g.4891G>A
NM_001320333.1   c.-402G>A
NM_052939.3   c.-402G>A
NR_135214.1   n.-95G>A
NR_135215.1   n.-95G>A
NR_135216.1   n.-95G>A
NR_135217.1   n.-95G>A
XR_241064.1   n.-204G>A
XR_241065.1   n.-204G>A
XR_241066.1   n.-204G>A
rs1126714

Strand:    Allele origin:   Allele change: A/C   Mutation type: snp

CM000664.2   g.49017528T>G
NC_000002.11   g.49244667T>G
NC_000002.12   g.49017528T>G
NG_008146.1   g.141964A>C
NM_000145.3   c.335A>C
NM_181446.2   c.335A>C
NP_000136.2   p.Asn112Thr
NP_852111.2   p.Asn112Thr
XP_005264299.1   p.Asn112Thr
XP_011531035.1   p.Asn112Thr
XP_011531042.1   p.Asn112Thr
rs1130409

Strand:    Allele origin:   Allele change: A/C/G/T   Mutation type: snp

CM000676.2   g.20456995T>A
CM000676.2   g.20456995T>C
CM000676.2   g.20456995T>G
NC_000014.8   g.20925154T>A
NC_000014.8   g.20925154T>G
NC_000014.9   g.20456995T>A
NC_000014.9   g.20456995T>C
NC_000014.9   g.20456995T>G
NG_008718.1   g.6865T>A
NG_008718.1   g.6865T>C
NG_008718.1   g.6865T>G
NM_001244249.1   c.444T>A
NM_001244249.1   c.444T>C
NM_001244249.1   c.444T>G
NM_001641.3   c.444T>A
NM_001641.3   c.444T>C
NM_001641.3   c.444T>G
NM_017807.3   c.-2312A>C
NM_017807.3   c.-2312A>G
NM_017807.3   c.-2312A>T
NM_080648.2   c.444T>A
NM_080648.2   c.444T>C
NM_080648.2   c.444T>G
NM_080649.2   c.444T>A
NM_080649.2   c.444T>C
NM_080649.2   c.444T>G
NP_001231178.1   p.Asp148=
NP_001231178.1   p.Asp148Glu
NP_001632.2   p.Asp148=
NP_001632.2   p.Asp148Glu
NP_542379.1   p.Asp148=
NP_542379.1   p.Asp148Glu
NP_542380.1   p.Asp148=
NP_542380.1   p.Asp148Glu
XP_005267638.1   p.Asp148Glu
XP_005267639.1   p.Asp131Glu
XP_005267640.1   p.Asp131Glu
rs17561

Strand: -   Allele origin: unknown  Allele change: G/T   Mutation type: snp

NC_000002.12   g.112779646C>A
NC_000002.11   g.113537223C>A
NG_008850.1   g.10749G>T
NM_000575.4   c.340G>T
NP_000566.3   p.Ala114Ser
  
rs11651755

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000679.2   g.37739849T>C
NC_000017.10   g.36099840C>T
NC_000017.11   g.37739849T>C
NG_013019.2   g.10258A=
NG_013019.2   g.10258A>G
NM_000458.3   c.345-210A>G
NM_000458.3   c.345-210G>A
NM_001165923.3   c.345-210A>G
NM_001165923.3   c.345-210G>A
NM_001304286.1   c.345-210A>G
NM_001304286.1   c.345-210G>A
NT_187614.1   g.1978905C=
NT_187614.1   g.1978905C>T
rs12082745

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000663.2   g.6104220G>A
NC_000001.10   g.6164280G>A
NC_000001.11   g.6104220G>A
NM_015557.2   c.*1254C>T
XP_005263606.1   p.Pro209Leu
rs1234220

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000672.2   g.87885716A>G
NC_000010.10   g.89645473A>G
NC_000010.11   g.87885716A>G
NG_007466.2   g.27278A>G
NM_000314.4   c.80-8309A>G
NM_000314.6   c.80-8309A>G
NM_001304717.2   c.599-8309A>G
NM_001304718.1   c.-626-8309A>G
NW_013171807.1   g.101539A>G
rs280523

Strand: +   Allele origin: germline,germline  Allele change: A/C/G   Mutation type: snp

NC_000019.10   g.10366530G>A
NC_000019.9   g.10477206G>A
NG_007872.1   g.19043C>T
NM_003331.4   c.516C>T
NP_003322.3   p.Thr172=
XM_005260049.1   c.516C>T
XM_011528245.1   c.516C>T
XM_011528247.1   c.219C>T
XM_011528246.2   c.219C>T
XM_011528251.1   c.-2095C>T
XM_011528252.1  
Clinical Significance: Likely benign

rs1255998

Strand:    Allele origin:   Allele change: A/C/G   Mutation type: snp

CM000676.2   g.64227153G>C
CM000676.2   g.64227153G>T
NC_000014.8   g.64693871G>C
NC_000014.9   g.64227153G>C
NC_000014.9   g.64227153G>T
NG_011535.1   g.116398C>A
NG_011535.1   g.116398C>G
NG_011756.1   g.379189G>C
NG_011756.1   g.379189G>T
NM_001040275.1   c.*380C>A
NM_001040275.1   c.*380C>G
NM_001214902.1   c.*737C>A
NM_001214902.1   c.*737C>G
NM_001291712.1   c.*380C>A
NM_001291712.1   c.*380C>G
NM_001291723.1   c.*380C>A
NM_001291723.1   c.*380C>G
NR_073496.1   n.2472C>A
NR_073496.1   n.2472C>G
NR_073505.1   n.2611C>G
XR_001750187.1   n.2304C>A
XR_001750187.1   n.2304C>G
rs12758341

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000663.2   g.6101899G>A
NC_000001.10   g.6161959G>A
NC_000001.11   g.6101899G>A
NG_047091.1   g.114602G>A
NM_015557.2   c.*3575C>T
rs605059

Strand: -   Allele origin: unknown  Allele change: C/G/T   Mutation type: snp

XP_006721920.1   p.Ala373=
XP_006721921.1   p.Ala372=
XP_006721922.1   p.Gly345Arg
XP_006721922.1   p.Gly345Ser
XP_011523031.1   p.Ala342=
XP_011523032.1   p.Ala341=
XP_011523033.1   p.Gly314Arg
XP_011523033.1   p.Gly314Ser
XP_005257347.1   p.Ala342=
XP_005257348.1   p.Ala34
rs1333042

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000671.2   g.22103814A>G
NC_000009.11   g.22103813A>G
NC_000009.12   g.22103814A>G
NR_003529.3   n.2698+6450A>G
NR_047532.1   n.1487+6450A>G
NR_047534.1   n.751+6450A>G
NR_047535.1   n.781-8506A>G
NR_047536.1   n.645-8506A>G
NR_047537.1   n.781-16386A>G
NR_047538.1   n.645-16386A>G
NR_047543.1   n.781-8506A>G
NR_120536.1   n.645-16690A>G
rs1537370

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000671.2   g.22084311C>T
NC_000009.11   g.22084310C>T
NC_000009.12   g.22084311C>T
NR_003529.3   n.2449-12061C>T
NR_047532.1   n.1076-7997C>T
NR_047534.1   n.645-12947C>T
NR_047535.1   n.780+27924C>T
NR_047536.1   n.645-28009C>T
NR_047537.1   n.780+27924C>T
NR_047538.1   n.644+35083C>T
NR_047543.1   n.780+27924C>T
NR_120536.1   n.644+35083C>T
rs1544410

Strand:    Allele origin:   Allele change: A/C/G/T   Mutation type: snp

CM000674.2   g.47846052C>A
CM000674.2   g.47846052C>G
CM000674.2   g.47846052C>T
NC_000012.11   g.48239835C>T
NC_000012.12   g.47846052C>A
NC_000012.12   g.47846052C>G
NC_000012.12   g.47846052C>T
NG_008731.1   g.63980G>A
NG_008731.1   g.63980G>C
NG_008731.1   g.63980G>T
NM_000376.2   c.1024+283G>A
NM_000376.2   c.1024+283G>C
NM_000376.2   c.1024+283G>T
NM_001017535.1   c.1024+283G>A
NM_001017535.1   c.1024+283G>C
NM_001017535.1   c.1024+283G>T
NM_001017536.1   c.1174+283G>A
NM_001017536.1   c.1174+283G>C
NM_001017536.1   c.1174+283G>T
rs1638626

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000672.2   g.117541943C>T
NC_000010.10   g.119301454C>T
NC_000010.11   g.117541943C>T
NG_013009.1   g.4499C>T
NM_001165924.1   c.-1325C>T
NM_004098.3   c.-1325C>T
NR_002791.2   n.574+2363G>A
NR_144378.1   n.493+154G>A
rs1695

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000673.2   g.67585218A>G
NC_000011.10   g.67585218A>G
NC_000011.9   g.67352689A>G
NG_012075.1   g.6624A>G
NM_000852.3   c.313A>G
NP_000843.1   p.Ile105Val
XP_005274015.1   p.Ile105Val
Clinical Significance: drug-response

rs17431184

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000672.2   g.87960494T>C
NC_000010.10   g.89720251T>C
NC_000010.11   g.87960494T>C
NG_007466.2   g.102056T>C
NM_000314.4   c.802-400T>C
NM_000314.6   c.802-400T>C
NM_001304717.2   c.1321-400T>C
NM_001304718.1   c.211-400T>C
NW_013171807.1   g.176283T>C
rs17436816

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000663.2   g.6144101G>A
NC_000001.10   g.6204161G>A
NC_000001.11   g.6144101G>A
NM_015557.2   c.1857C>T
NP_056372.1   p.Tyr619=
rs17761446

Strand:    Allele origin:   Allele change: G/T   Mutation type: snp

CM000671.2   g.22118103T>G
NC_000009.11   g.22118102T>G
NC_000009.12   g.22118103T>G
NR_003529.3   n.2909-541T>G
NR_047532.1   n.1698-541T>G
NR_047534.1   n.962-541T>G
NR_047535.1   n.857-541T>G
NR_047536.1   n.721-541T>G
NR_047537.1   n.781-2097T>G
NR_047538.1   n.645-2097T>G
NR_047543.1   n.991-541T>G
NR_120536.1   n.645-2401T>G
rs17834457

Strand:    Allele origin:   Allele change: C/G/T   Mutation type: snp

CM000671.2   g.22118027C>G
CM000671.2   g.22118027C>T
NC_000009.11   g.22118026C>T
NC_000009.12   g.22118027C>G
NC_000009.12   g.22118027C>T
NR_003529.3   n.2909-617C>G
NR_003529.3   n.2909-617C>T
NR_047532.1   n.1698-617C>G
NR_047532.1   n.1698-617C>T
NR_047534.1   n.962-617C>G
NR_047534.1   n.962-617C>T
NR_047535.1   n.857-617C>G
NR_047535.1   n.857-617C>T
NR_047536.1   n.721-617C>G
NR_047536.1   n.721-617C>T
NR_047537.1   n.781-2173C>G
NR_047537.1   n.781-2173C>T
NR_047538.1   n.645-2173C>G
NR_047538.1   n.645-2173C>T
NR_047543.1   n.991-617C>G
NR_047543.1   n.991-617C>T
NR_120536.1   n.645-2477C>G
NR_120536.1   n.645-2477C>T
rs17847065

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000668.2   g.151808349C>A
CM000668.2   g.151808349C>T
NC_000006.11   g.152129484C>A
NC_000006.11   g.152129484C>T
NC_000006.12   g.151808349C>A
NC_000006.12   g.151808349C>T
NG_008493.2   g.156659C>A
NG_008493.2   g.156659C>T
NM_000125.3   c.437C>A
NM_000125.3   c.437C>T
NM_001122740.1   c.437C>A
NM_001122740.1   c.437C>T
NM_001122741.1   c.437C>A
NM_001122741.1   c.437C>T
NM_001122742.1   c.437C>A
NM_001122742.1   c.437C>T
NM_001291230.1   c.437C>A
NM_001291230.1   c.437C>T
NM_001291241.1   c.437C>A
NM_001291241.1   c.437C>T
NM_001328100.1   c.-990C>A
NM_001328100.1   c.-990C>T
NP_000116.2   p.Pro146Gln
NP_000116.2   p.Pro146Leu
NP_001116212.1   p.Pro146Gln
NP_001116212.1   p.Pro146Leu
NP_001116213.1   p.Pro146Gln
NP_001116213.1   p.Pro146Leu
NP_001116214.1   p.Pro146Gln
NP_001116214.1   p.Pro146Leu
NP_001278159.1   p.Pro146Gln
NP_001278159.1   p.Pro146Leu
NP_001278170.1   p.Pro146Gln
NP_001278170.1   p.Pro146Leu
XP_005266913.1   p.Pro146Gln
XP_005266913.1   p.Pro146Leu
XP_005266914.1   p.Pro146Gln
XP_005266914.1   p.Pro146Leu
XP_006715437.1   p.Pro146Gln
XP_006715437.1   p.Pro146Leu
XP_011533845.1   p.Pro146Gln
XP_011533845.1   p.Pro146Leu
XP_011533846.1   p.Pro146Gln
XP_011533846.1   p.Pro146Leu
XP_011533847.1   p.Pro146Gln
XP_011533847.1   p.Pro146Leu
XP_011533849.1   p.Pro146Gln
XP_011533849.1   p.Pro146Leu
XP_016865865.1   p.Pro146Gln
XP_016865865.1   p.Pro146Leu
XP_016865866.1   p.Pro146Gln
XP_016865866.1   p.Pro146Leu
XP_016865867.1   p.Pro146Gln
XP_016865867.1   p.Pro146Leu
XP_016865868.1   p.Pro146Gln
XP_016865868.1   p.Pro146Leu
XP_016865869.1   p.Pro146Gln
XP_016865869.1   p.Pro146Leu
XP_016865870.1   p.Pro146Gln
XP_016865870.1   p.Pro146Leu
XR_001743222.1   n.807C>A
XR_001743222.1   n.807C>T
XR_001743223.1   n.807C>A
XR_001743223.1   n.807C>T
rs833061

Strand: +   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000006.12   g.43769749C>T
NC_000006.11   g.43737486C>T
NG_008732.1   g.4534C>T
NM_001204384.1   c.-1498C>T
NM_001204385.1   c.-958C>T
NM_001171629.1   c.-1498C>T
NM_001171630.1   c.-1498C>T
NM_001171628.1   c.-1498C>T
NM_001171627.1   c.-1498C>T
NM_001171622.1   c.-958C>T
rs17847076

Strand:    Allele origin:   Allele change: A/T   Mutation type: snp

CM000668.2   g.151842646A>T
NC_000006.11   g.152163781A>T
NC_000006.12   g.151842646A>T
NG_008493.2   g.190956A>T
NM_000125.3   c.502A>T
NM_001122740.1   c.502A>T
NM_001122741.1   c.502A>T
NM_001122742.1   c.502A>T
NM_001291230.1   c.502A>T
NM_001291241.1   c.502A>T
NM_001328100.1   c.-18A>T
NP_000116.2   p.Thr168Ser
NP_001116212.1   p.Thr168Ser
NP_001116213.1   p.Thr168Ser
NP_001116214.1   p.Thr168Ser
NP_001278159.1   p.Thr168Ser
NP_001278170.1   p.Thr168Ser
XP_005266913.1   p.Thr168Ser
XP_005266914.1   p.Thr168Ser
XP_006715437.1   p.Thr168Ser
XP_011533845.1   p.Thr168Ser
XP_011533846.1   p.Thr168Ser
XP_011533847.1   p.Thr168Ser
XP_011533849.1   p.Thr168Ser
XP_016865865.1   p.Thr168Ser
XP_016865866.1   p.Thr168Ser
XP_016865867.1   p.Thr168Ser
XP_016865868.1   p.Thr168Ser
XP_016865869.1   p.Thr168Ser
XP_016865870.1   p.Thr168Ser
XR_001743222.1   n.872A>T
XR_001743223.1   n.872A>T
rs945635

Strand: +   Allele origin: unknown  Allele change: A/C/G   Mutation type: snp

  
XM_006711145.1   c.-11G>C
XM_006711145.1   c.-11G>T
NM_001320333.1   c.-11G>C
NM_001320333.1   c.-11G>T
XM_005244872.1   c.-11G>C
XM_005244872.1   c.-11G>T
XM_005244870.1   c.-11G>C
XM_005244870.1   c.-11G>T
XM_005244871.1   c.-11G>C
XM_005244871.1   c.-11G>T
NR_135214.1   n.
rs1800610

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000668.2   g.31576050G>A
NC_000006.11   g.31543827G>A
NC_000006.12   g.31576050G>A
NG_007462.1   g.5478G>A
NG_012010.1   g.8952G>A
NM_000594.3   c.186+123G>A
NT_113891.2   g.3053443G>A
NT_113891.3   g.3053337G>A
NT_167244.1   g.2858545G>A
NT_167244.2   g.2908629G>A
NT_167245.1   g.2829368G>A
NT_167245.2   g.2823783G>A
NT_167246.1   g.2886711G>A
NT_167246.2   g.2881091G>A
NT_167247.1   g.2923533G>A
NT_167247.2   g.2917948G>A
NT_167248.1   g.2837465G>A
NT_167248.2   g.2831869G>A
NT_167249.1   g.2874628G>A
NT_167249.2   g.2875330G>A
rs1800750

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000668.2   g.31575186G>A
NC_000006.11   g.31542963G>A
NC_000006.12   g.31575186G>A
NG_007462.1   g.4614G>A
NG_012010.1   g.8088G>A
NM_000594.3   c.-556G>A
NT_113891.2   g.3052579G>A
NT_113891.3   g.3052473G>A
NT_167245.1   g.2828504G>A
NT_167245.2   g.2822919G>A
NT_167246.1   g.2885847G>A
NT_167246.2   g.2880227G>A
NT_167247.1   g.2922669G>A
NT_167247.2   g.2917084G>A
NT_167248.1   g.2836601A=
NT_167248.1   g.2836601A>G
NT_167248.2   g.2831005A=
NT_167248.2   g.2831005A>G
NT_167249.1   g.2873764G>A
NT_167249.2   g.2874466G>A
rs1155563

Strand: +   Allele origin: unknown  Allele change: C/T   Mutation type: snp

  
NC_000004.11   g.72643488T>C
NC_000004.12   g.71777771T>C
NG_012837.2   g.32750A>G
NM_000583.3   c.58+6190A>G
NM_001204307.1   c.115+6190A>G
NM_001204306.1   c.58+6190A>G
XM_006714177.2   c.58+6190A>G
  
rs1250248

Strand: +   Allele origin: unknown  Allele change: A/G   Mutation type: snp

  
NC_000002.12   g.215422370A>G
NC_000002.11   g.216287093A>G
NG_012196.1   g.18699T>C
NM_001306132.1   c.1394-127T>C
NM_001306131.1   c.1394-127T>C
NM_001306129.1   c.1394-127T>C
NM_001306130.1   c.1394-127T>C
NM_002026.3   c.1394-127T>C
NM_054034.2   c.1394-127T>C
NM_2124  
rs1256049

Strand: -   Allele origin: unknown  Allele change: A/G   Mutation type: snp

  
NC_000014.9   g.64257333C>T
NC_000014.8   g.64724051C>T
NG_011535.1   g.86218G>A
NM_001040275.1   c.984G>A
NM_001214903.1   c.984G>A
NM_001214902.1   c.984G>A
NM_001271876.1   c.984G>A
NM_001271877.1   c.952+3116G>A
NM_001291712.1   c.984G>A
NM_001291723.1   c.984G>A
NM_001  
rs1304037

Strand: -   Allele origin: unknown  Allele change: A/G   Mutation type: snp

  
NC_000002.11   g.113532236T>C
NC_000002.12   g.112774659T>C
NG_008850.1   g.15736A>G
NM_000575.4   c.*408A>G
  
rs1801132

Strand:    Allele origin:   Allele change: C/G   Mutation type: snp

CM000668.2   g.151944387G>C
NC_000006.11   g.152265522G>C
NC_000006.12   g.151944387G>C
NG_008493.2   g.292697C=
NG_008493.2   g.292697C>G
NM_000125.3   c.975C=
NM_000125.3   c.975C>G
NM_001122740.1   c.975C=
NM_001122740.1   c.975C>G
NM_001122741.1   c.975C=
NM_001122741.1   c.975C>G
NM_001122742.1   c.975C=
NM_001122742.1   c.975C>G
NM_001291230.1   c.981C=
NM_001291230.1   c.981C>G
NM_001291241.1   c.972C=
NM_001291241.1   c.972C>G
NM_001328100.1   c.456C=
NM_001328100.1   c.456C>G
NP_000116.2   p.Pro325=
NP_001116212.1   p.Pro325=
NP_001116213.1   p.Pro325=
NP_001116214.1   p.Pro325=
NP_001278159.1   p.Pro327=
NP_001278170.1   p.Pro324=
NP_001315029.1   p.Pro152=
XP_005266913.1   p.Pro327=
XP_005266914.1   p.Pro324=
XP_006715437.1   p.Pro325=
XP_006715438.1   p.Pro152=
XP_011533845.1   p.Pro325=
XP_011533846.1   p.Pro325=
XP_011533847.1   p.Pro325=
XP_011533849.1   p.Pro325=
XP_011533851.1   p.Pro82=
XP_016865865.1   p.Pro325=
XP_016865866.1   p.Pro325=
XP_016865867.1   p.Pro325=
XP_016865868.1   p.Pro325=
XP_016865869.1   p.Pro325=
XP_016865870.1   p.Pro325=
XP_016865871.1   p.Pro106=
XP_016865872.1   p.Pro62=
XR_001743222.1   n.1345G>C
XR_001743223.1   n.1345G>C
rs1801270

Strand:    Allele origin: A(unknown)/C(germline,unknown)  Allele change: A/C/T   Mutation type: snp

CM000668.2   g.36684194C>A
CM000668.2   g.36684194C>T
NC_000006.11   g.36651971C>A
NC_000006.12   g.36684194C>A
NC_000006.12   g.36684194C>T
NG_009364.1   g.10513C>A
NG_009364.1   g.10513C>T
NM_000389.4   c.93C>A
NM_000389.4   c.93C>T
NM_001220777.1   c.93C>A
NM_001220777.1   c.93C>T
NM_001220778.1   c.93C>A
NM_001220778.1   c.93C>T
NM_001291549.1   c.195C>A
NM_001291549.1   c.195C>T
NM_078467.2   c.93C>A
NM_078467.2   c.93C>T
NP_000380.1   p.Ser31=
NP_000380.1   p.Ser31Arg
NP_001207706.1   p.Ser31=
NP_001207706.1   p.Ser31Arg
NP_001207707.1   p.Ser31=
NP_001207707.1   p.Ser31Arg
NP_001278478.1   p.Ser65=
NP_001278478.1   p.Ser65Arg
NP_510867.1   p.Ser31=
NP_510867.1   p.Ser31Arg
XP_005248844.1   p.Ser65Arg
Clinical Significance: Benign

rs1883603

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000663.2   g.6152881G>A
NC_000001.10   g.6212941G>A
NC_000001.11   g.6152881G>A
NM_015557.2   c.746-345C>T
rs1884053

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000668.2   g.151970331C>T
NC_000006.11   g.152291466C>T
NC_000006.12   g.151970331C>T
NG_008493.2   g.318641C>T
NM_000125.3   c.1096+25823C>T
NM_001122740.1   c.1096+25823C>T
NM_001122741.1   c.1096+25823C>T
NM_001122742.1   c.1096+25823C>T
NM_001291230.1   c.1102+25823C>T
NM_001291241.1   c.1093+25823C>T
NM_001328100.1   c.577+25823C>T
XR_001743222.1   n.1466+25823C>T
XR_001743223.1   n.1466+25823C>T
rs1884054

Strand:    Allele origin:   Allele change: A/C   Mutation type: snp

CM000668.2   g.151970431C>A
NC_000006.11   g.152291566C>A
NC_000006.12   g.151970431C>A
NG_008493.2   g.318741C>A
NM_000125.3   c.1096+25923C>A
NM_001122740.1   c.1096+25923C>A
NM_001122741.1   c.1096+25923C>A
NM_001122742.1   c.1096+25923C>A
NM_001291230.1   c.1102+25923C>A
NM_001291241.1   c.1093+25923C>A
NM_001328100.1   c.577+25923C>A
XR_001743222.1   n.1466+25923C>A
XR_001743223.1   n.1466+25923C>A
rs2066479

Strand:    Allele origin:   Allele change: A/C/G/T   Mutation type: snp

CM000671.2   g.96235528C>T
NC_000009.11   g.98997810C>T
NC_000009.12   g.96235528C>T
NG_008157.1   g.71625G>A
NM_000197.1   c.865G>A
NP_000188.1   p.Gly289Ser
XP_005252026.1   p.Gly239Ser
XP_005252027.1   p.Gly169Ser
XP_005252028.1   p.Gly169Ser
XP_011516920.1   p.Gly289Ser
XP_011516921.1   p.Gly289Ser
XP_016870160.1   p.Gly289Ser
XP_016870161.1   p.Gly289Ser
XP_016870162.1   p.Gly277Ser
XP_016870163.1   p.Gly253Ser
XP_016870164.1   p.Gly235Ser
XP_016870166.1   p.Gly169Ser
Clinical Significance: Likely benign

rs2066480

Strand:    Allele origin:   Allele change: A/C/G   Mutation type: snp

CM000671.2   g.96302014C>G
CM000671.2   g.96302014C>T
NC_000009.11   g.99064296C>T
NC_000009.12   g.96302014C>G
NC_000009.12   g.96302014C>T
NG_008157.1   g.5139G>A
NG_008157.1   g.5139G>C
NM_000197.1   c.91G>A
NM_000197.1   c.91G>C
NP_000188.1   p.Val31Ile
NP_000188.1   p.Val31Leu
XP_005252026.1   p.Val31Ile
XP_011516920.1   p.Val31Ile
XP_011516920.1   p.Val31Leu
XP_011516921.1   p.Val31Ile
XP_011516921.1   p.Val31Leu
XP_016870160.1   p.Val31Ile
XP_016870160.1   p.Val31Leu
XP_016870161.1   p.Val31Ile
XP_016870161.1   p.Val31Leu
XP_016870162.1   p.Val31Ile
XP_016870162.1   p.Val31Leu
XP_016870163.1   p.Val31Ile
XP_016870163.1   p.Val31Leu
XP_016870164.1   p.Cys2Ser
XP_016870164.1   p.Cys2Tyr
XP_016870165.1   p.Val31Ile
XP_016870165.1   p.Val31Leu
Clinical Significance: Likely benign

rs2070074

Strand:    Allele origin: G(germline)/A(germline)  Allele change: A/G   Mutation type: snp

AAC83409.1   p.Asn314Asp
CM000671.2   g.34649445A>G
M60091.1   c.940A>G
NC_000009.11   g.34649442A>G
NC_000009.12   g.34649445A>G
NG_009029.1   g.7808A>G
NG_009029.2   g.7857A>G
NG_028966.1   g.2261A>G
NM_000155.1   c.940A>G
NM_000155.3   c.940A>G
NM_001258332.1   c.613A>G
NP_000146.1   p.Asn314Asp
NP_000146.2   p.Asn314Asp
NP_001245261.1   p.Asn205Asp
XP_005251487.1   p.Asn310Asp
XP_005251488.1   p.Asn286Asp
XP_005251489.1   p.Asn266Asp
XP_005251490.1   p.Asn138Asp
XP_005251491.1   p.Asn138Asp
Clinical Significance: Pathogenic

rs2092507

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000663.2   g.6104348G>A
NC_000001.10   g.6164408G>A
NC_000001.11   g.6104348G>A
NM_015557.2   c.*1126C>T
XP_005263606.1   p.Gly166=
rs2107538

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000679.2   g.35880776C>T
NC_000017.10   g.34207780C>T
NC_000017.11   g.35880776C>T
NG_015990.1   g.4598G>A
NM_001278736.1   c.-471G>A
NM_002985.2   c.-471G>A
NT_187614.1   g.115308C>T
NW_004166864.2   g.172944C>T
XR_001752852.1   n.426+702C>T
XR_001756367.1   n.426+702C>T
XR_934696.2   n.91-3606C>T
XR_934697.2   n.91-3606C>T
XR_951963.2   n.91-3606C>T
XR_951964.2   n.91-3606C>T
rs2157719

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000671.2   g.22033367C>T
NC_000009.11   g.22033366C>T
NC_000009.12   g.22033367C>T
NR_003529.3   n.846+381C>T
NR_047532.1   n.533+3773C>T
NR_047533.1   n.372-13384C>T
NR_047534.1   n.372-13384C>T
NR_047535.1   n.372-13384C>T
NR_047536.1   n.372-13384C>T
NR_047537.1   n.372-13384C>T
NR_047538.1   n.372-13384C>T
NR_047539.1   n.846+381C>T
NR_047540.1   n.372-13384C>T
NR_047541.1   n.372-13384C>T
NR_047542.1   n.372-13384C>T
NR_047543.1   n.372-13384C>T
NR_120536.1   n.372-13384C>T
rs2207396

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000668.2   g.152061247G>A
NC_000006.11   g.152382382G>A
NC_000006.12   g.152061247G>A
NG_008493.2   g.409557G>A
NM_000125.3   c.1369+123G>A
NM_001122740.1   c.1369+123G>A
NM_001122741.1   c.1369+123G>A
NM_001122742.1   c.1369+123G>A
NM_001291230.1   c.1375+123G>A
NM_001291241.1   c.1366+123G>A
NM_001328100.1   c.850+123G>A
XR_001743222.1   n.1600+123G>A
XR_001743223.1   n.1600+123G>A
rs2227564

Strand:    Allele origin: T(germline)/C(germline)  Allele change: C/T   Mutation type: snp

CM000672.2   g.73913343T>C
NC_000010.10   g.75673101T=
NC_000010.10   g.75673101T>C
NC_000010.11   g.73913343T=
NC_000010.11   g.73913343T>C
NG_011904.1   g.7240C=
NG_011904.1   g.7240C>T
NM_001001791.2   c.-73-268A>G
NM_001001791.2   c.-73-268G>A
NM_001145031.1   c.371C=
NM_001145031.1   c.371C>T
NM_001145031.2   c.371C=
NM_001145031.2   c.371C>T
NM_001319191.1   c.164C=
NM_001319191.1   c.164C>T
NM_002658.3   c.422C=
NM_002658.3   c.422C>T
NM_002658.4   c.422C=
NM_002658.4   c.422C>T
NP_001138503.1   p.Pro124=
NP_001138503.1   p.Pro124Leu
NP_001306120.1   p.Pro55=
NP_001306120.1   p.Pro55Leu
NP_002649.1   p.Pro141=
NP_002649.1   p.Pro141Leu
XP_005269958.1   p.Leu55=
XP_005269958.1   p.Leu55Pro
XP_011538168.1   p.Leu141=
XP_011538168.1   p.Leu141Pro
Clinical Significance: other

rs2227579

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000672.2   g.73911531C>A
CM000672.2   g.73911531C>T
NC_000010.10   g.75671289C>T
NC_000010.11   g.73911531C>A
NC_000010.11   g.73911531C>T
NG_011904.1   g.5428C>A
NG_011904.1   g.5428C>T
NM_001001791.2   c.*154G>A
NM_001001791.2   c.*154G>T
NM_001145031.1   c.-361C>A
NM_001145031.1   c.-361C>T
NM_001145031.2   c.-361C>A
NM_001145031.2   c.-361C>T
NM_001319191.1   c.-255C>A
NM_001319191.1   c.-255C>T
NM_002658.3   c.-25C>A
NM_002658.3   c.-25C>T
NM_002658.4   c.-25C>A
NM_002658.4   c.-25C>T
Clinical Significance: Likely benign

rs2228480

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000668.2   g.152098960G>A
NC_000006.11   g.152420095G>A
NC_000006.12   g.152098960G>A
NG_008493.2   g.447270G>A
NM_000125.3   c.1782G>A
NM_001122740.1   c.1782G>A
NM_001122741.1   c.1782G>A
NM_001122742.1   c.1782G>A
NM_001291230.1   c.1788G>A
NM_001291241.1   c.1779G>A
NM_001328100.1   c.851-26306G>A
NP_000116.2   p.Thr594=
NP_001116212.1   p.Thr594=
NP_001116213.1   p.Thr594=
NP_001116214.1   p.Thr594=
NP_001278159.1   p.Thr596=
NP_001278170.1   p.Thr593=
XP_005266913.1   p.Thr596=
XP_005266914.1   p.Thr593=
XP_006715438.1   p.Thr421=
XP_011533845.1   p.Thr594=
XP_011533846.1   p.Thr594=
XP_011533847.1   p.Thr594=
XP_011533851.1   p.Thr351=
XP_016865865.1   p.Thr594=
XP_016865866.1   p.Thr594=
XP_016865867.1   p.Thr594=
XP_016865868.1   p.Thr594=
XP_016865869.1   p.Thr594=
XP_016865870.1   p.Thr594=
XP_016865871.1   p.Thr375=
XP_016865872.1   p.Thr331=
XR_001743222.1   n.2013G>A
XR_001743223.1   n.1829G>A
rs2240776

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000672.2   g.117548013T>A
CM000672.2   g.117548013T>G
NC_000010.10   g.119307524T>A
NC_000010.11   g.117548013T>A
NC_000010.11   g.117548013T>G
NG_013009.1   g.10569T>A
NG_013009.1   g.10569T>G
NM_001165924.1   c.407-52T>A
NM_001165924.1   c.407-52T>G
NM_004098.3   c.592-52T>A
NM_004098.3   c.592-52T>G
rs1801133

Strand: -   Allele origin: germline,germline  Allele change: C/T   Mutation type: snp

  
NC_000001.11   g.11796321G>A
NC_000001.10   g.11856378G>A
NG_013351.1   g.14783C>T
NM_001330358.1   c.788C>T
NM_005957.4   c.665C>T
NP_001317287.1   p.Ala263Val
NP_005948.3   p.Ala222Val
XM_005263462.1   c.665C>T
XM_005263462.4   c.665C>T
XM_005263460.4   c.665C>T
XM_005263  
Clinical Significance: drug-response

rs2280788

Strand:    Allele origin:   Allele change: C/G   Mutation type: snp

CM000679.2   g.35880401G>C
NC_000017.10   g.34207405G>C
NC_000017.11   g.35880401G>C
NG_015990.1   g.4973C>G
NM_001278736.1   c.-96C>G
NM_002985.2   c.-96C>G
NT_187614.1   g.114933G>C
NW_004166864.2   g.172569G>C
XR_001752852.1   n.426+327G>C
XR_001756367.1   n.426+327G>C
XR_934696.2   n.91-3981G>C
XR_934697.2   n.91-3981G>C
XR_951963.2   n.91-3981G>C
XR_951964.2   n.91-3981G>C
rs2286629

Strand:    Allele origin:   Allele change: A/C   Mutation type: snp

CM000672.2   g.117542183T>G
NC_000010.10   g.119301694T>G
NC_000010.11   g.117542183T>G
NG_013009.1   g.4739T>G
NM_001165924.1   c.-1085T>G
NM_004098.3   c.-1085T>G
NR_002791.2   n.574+2123A>C
NR_144378.1   n.407A>C
rs2294021

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000685.2   g.49249149T>A
CM000685.2   g.49249149T>C
NC_000023.10   g.49105610T>C
NC_000023.11   g.49249149T>A
NC_000023.11   g.49249149T>C
NG_007392.1   g.20679A>G
NG_007392.1   g.20679A>T
NG_021311.2   g.18685T>A
NG_021311.2   g.18685T>C
NM_014008.4   c.1540-18T>A
NM_014008.4   c.1540-18T>C
NW_004070880.2   g.1488578T>C
XR_430506.2   n.1638-18T>A
XR_430506.2   n.1638-18T>C
Clinical Significance: Benign

rs2299939

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000672.2   g.87897393C>A
CM000672.2   g.87897393C>T
NC_000010.10   g.89657150C>A
NC_000010.11   g.87897393C>A
NC_000010.11   g.87897393C>T
NG_007466.2   g.38955C>A
NG_007466.2   g.38955C>T
NM_000314.4   c.164+3284C>A
NM_000314.4   c.164+3284C>T
NM_000314.6   c.164+3284C>A
NM_000314.6   c.164+3284C>T
NM_001304717.2   c.683+3284C>A
NM_001304717.2   c.683+3284C>T
NM_001304718.1   c.-542+3284C>A
NM_001304718.1   c.-542+3284C>T
NW_013171807.1   g.113217C>A
NW_013171807.1   g.113217C>T
rs2010963

Strand: +   Allele origin: germline,germline  Allele change: C/G   Mutation type: snp

  
NC_000006.12   g.43770613C>G
NC_000006.11   g.43738350C>G
NG_008732.1   g.5398C>G
NM_001033756.2   c.-94C>G
NM_001025366.2   c.-94C>G
NM_001025368.2   c.-94C>G
NM_001025367.2   c.-94C>G
NM_001025370.2   c.-94C>G
NM_001025369.2   c.-94C>G
NM_001204385.1   c.-94C>G
NM_0012043  
Clinical Significance: other

rs2347867

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000668.2   g.151908715G>A
NC_000006.11   g.152229850G>A
NC_000006.12   g.151908715G>A
NG_008493.2   g.257025G>A
NM_000125.3   c.760+27944G>A
NM_001122740.1   c.760+27944G>A
NM_001122741.1   c.760+27944G>A
NM_001122742.1   c.760+27944G>A
NM_001291230.1   c.766+27944G>A
NM_001291241.1   c.757+27947G>A
NM_001328100.1   c.241+27944G>A
XR_001743222.1   n.1130+27944G>A
XR_001743223.1   n.1130+27944G>A
rs2383206

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000671.2   g.22115027A>G
NC_000009.11   g.22115026A>G
NC_000009.12   g.22115027A>G
NR_003529.3   n.2908+1228A>G
NR_047532.1   n.1697+1228A>G
NR_047534.1   n.961+1228A>G
NR_047535.1   n.856+2632A>G
NR_047536.1   n.720+2632A>G
NR_047537.1   n.781-5173A>G
NR_047538.1   n.645-5173A>G
NR_047543.1   n.990+1228A>G
NR_120536.1   n.645-5477A>G
rs2735343

Strand:    Allele origin:   Allele change: C/G   Mutation type: snp

CM000672.2   g.87945672G>C
NC_000010.10   g.89705429G>C
NC_000010.11   g.87945672G>C
NG_007466.2   g.87234G>C
NG_010870.1   g.293G>C
NM_000314.4   c.493-6446G>C
NM_000314.6   c.493-6446G>C
NM_001304717.2   c.1012-6446G>C
NM_001304718.1   c.-100+2903G>C
NW_013171807.1   g.161461G>C
rs2228570

Strand: -   Allele origin: unknown  Allele change: A/C/G/T   Mutation type: snp

  
NC_000012.11   g.48272895A>G
NG_008731.1   g.30920T>C
NC_000012.12   g.47879112A>G
NM_000376.2   c.2T>C
NM_001017535.1   c.2T>C
NM_001017536.1   c.152T>C
NP_000367.1   p.Met1Thr
NP_001017536.1   p.Met51Thr
NP_001017535.1   p.Met1Thr
XM_006719587.3   c.2T>C
XM_011538720.2   c.
Clinical Significance: Benign

rs2234693

Strand: +   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000006.12   g.151842200T>C
NC_000006.11   g.152163335T>C
NG_008493.2   g.190510T>C
NM_000125.3   c.453-397T>C
NM_001122741.1   c.453-397T>C
NM_001122742.1   c.453-397T>C
NM_001122740.1   c.453-397T>C
NM_001291230.1   c.453-397T>C
NM_001291241.1   c.453-397T>C
NM_0013281  
rs2736627

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000672.2   g.87961337C>T
NC_000010.10   g.89721094C>T
NC_000010.11   g.87961337C>T
NG_007466.2   g.102899C>T
NM_000314.4   c.1026+219C>T
NM_000314.6   c.1026+219C>T
NM_001304717.2   c.1545+219C>T
NM_001304718.1   c.435+219C>T
NW_013171807.1   g.177126C>T
rs2276248

Strand: +   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000021.9   g.44259375T>C
NC_000021.8   g.45679258T>C
NM_013369.3   c.344+62A>G
NM_175867.2   c.344+62A>G
rs3093661

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000668.2   g.31575981G>A
NC_000006.11   g.31543758G>A
NC_000006.12   g.31575981G>A
NG_007462.1   g.5409G>A
NG_012010.1   g.8883G>A
NM_000594.3   c.186+54G>A
NT_113891.2   g.3053374G>A
NT_113891.3   g.3053268G>A
NT_167244.1   g.2858476G>A
NT_167244.2   g.2908560G>A
NT_167245.1   g.2829299A=
NT_167245.1   g.2829299A>G
NT_167245.2   g.2823714A=
NT_167245.2   g.2823714A>G
NT_167246.1   g.2886642G>A
NT_167246.2   g.2881022G>A
NT_167247.1   g.2923464G>A
NT_167247.2   g.2917879G>A
NT_167248.1   g.2837396G>A
NT_167248.2   g.2831800G>A
NT_167249.1   g.2874559G>A
NT_167249.2   g.2875261G>A
rs2298849

Strand: -   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000004.11   g.72648851A>G
NC_000004.12   g.71783134A>G
NG_012837.2   g.27387T>C
NM_000583.3   c.58+827T>C
NM_001204306.1   c.58+827T>C
NM_001204307.1   c.115+827T>C
XM_006714177.2   c.58+827T>C
rs3093662

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000668.2   g.31576412A>G
NC_000006.11   g.31544189A>G
NC_000006.12   g.31576412A>G
NG_007462.1   g.5840A>G
NM_000594.3   c.187-122A>G
NT_113891.2   g.3053805A>G
NT_113891.3   g.3053699A>G
NT_167244.1   g.2858907A>G
NT_167244.2   g.2908991A>G
NT_167245.1   g.2829730G=
NT_167245.1   g.2829730G>A
NT_167245.2   g.2824145G=
NT_167245.2   g.2824145G>A
NT_167246.1   g.2887073A>G
NT_167246.2   g.2881453A>G
NT_167247.1   g.2923895A>G
NT_167247.2   g.2918310A>G
NT_167248.1   g.2837829G=
NT_167248.1   g.2837829G>A
NT_167248.2   g.2832233G=
NT_167248.2   g.2832233G>A
NT_167249.1   g.2874990A>G
NT_167249.2   g.2875692A>G
rs2304256

Strand: +   Allele origin: unknown  Allele change: A/C   Mutation type: snp

NC_000019.9   g.10475652C>A
NC_000019.10   g.10364976C>A
NG_007872.1   g.20597G>T
NM_003331.4   c.1084G>T
NP_003322.3   p.Val362Phe
XM_005260049.1   c.1084G>T
XM_011528245.1   c.1084G>T
XM_011528247.1   c.787G>T
XM_011528249.2   c.-849G>T
XM_011528246.2   c.787G>T
XM_0115282  
Clinical Significance: Benign

rs3093664

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000668.2   g.31576865A>G
NC_000006.11   g.31544642A>G
NC_000006.12   g.31576865A>G
NG_007462.1   g.6293A>G
NM_000594.3   c.280+51A>G
NT_113891.2   g.3054258A>G
NT_113891.3   g.3054152A>G
NT_167244.1   g.2859360A>G
NT_167244.2   g.2909444A>G
NT_167245.1   g.2830183G=
NT_167245.1   g.2830183G>A
NT_167245.2   g.2824598G=
NT_167245.2   g.2824598G>A
NT_167246.1   g.2887526A>G
NT_167246.2   g.2881906A>G
NT_167247.1   g.2924348A>G
NT_167247.2   g.2918763A>G
NT_167248.1   g.2838282A>G
NT_167248.2   g.2832686A>G
NT_167249.1   g.2875443A>G
NT_167249.2   g.2876145A>G
rs361525

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000668.2   g.31575324G>A
NC_000006.11   g.31543101G>A
NC_000006.12   g.31575324G>A
NG_007462.1   g.4752G>A
NG_012010.1   g.8226G>A
NM_000594.3   c.-418G>A
NT_113891.2   g.3052717G>A
NT_113891.3   g.3052611G>A
NT_167245.1   g.2828642A=
NT_167245.1   g.2828642A>G
NT_167245.2   g.2823057A=
NT_167245.2   g.2823057A>G
NT_167246.1   g.2885985G>A
NT_167246.2   g.2880365G>A
NT_167247.1   g.2922807G>A
NT_167247.2   g.2917222G>A
NT_167248.1   g.2836739A=
NT_167248.1   g.2836739A>G
NT_167248.2   g.2831143A=
NT_167248.2   g.2831143A>G
NT_167249.1   g.2873902G>A
NT_167249.2   g.2874604G>A
rs365446

Strand:    Allele origin:   Allele change: C/G   Mutation type: snp

CM000672.2   g.117544804G>C
NC_000010.10   g.119304315G>C
NC_000010.11   g.117544804G>C
NG_013009.1   g.7360G>C
NM_001165924.1   c.406+1131G>C
NM_004098.3   c.407-828G>C
NR_002791.2   n.265C>G
rs3731197

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000671.2   g.21991372C>T
NC_000009.11   g.21991371C>T
NC_000009.12   g.21991372C>T
NG_007485.1   g.8120G>A
NM_058195.3   c.193+2767G>A
XR_242496.1   n.347+2767G>A
rs2856836

Strand: -   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000002.11   g.113532083A>G
NC_000002.12   g.112774506A>G
NG_008850.1   g.15889T>C
NM_000575.4   c.*561T>C
rs3025039

Strand: +   Allele origin: unknown  Allele change: C/T   Mutation type: snp

  
NC_000006.12   g.43784799C>T
NC_000006.11   g.43752536C>T
NG_008732.1   g.19584C>T
NM_001025367.2   c.*237C>T
NM_001025366.2   c.*237C>T
NM_001025368.2   c.*237C>T
NM_001025369.2   c.*253C>T
NM_001025370.2   c.*237C>T
NM_001033756.2   c.*171C>T
NM_001171626.1   c.*237C>T
NM  
rs385209

Strand:    Allele origin:   Allele change: A/C/G   Mutation type: snp

CM000672.2   g.117544545T>C
CM000672.2   g.117544545T>G
NC_000010.10   g.119304056T>C
NC_000010.11   g.117544545T>C
NC_000010.11   g.117544545T>G
NG_013009.1   g.7101T>C
NG_013009.1   g.7101T>G
NM_001165924.1   c.406+872T>C
NM_001165924.1   c.406+872T>G
NM_004098.3   c.406+872T>C
NM_004098.3   c.406+872T>G
NR_002791.2   n.503+21A>C
NR_002791.2   n.503+21A>G
NR_144378.1   n.-1956A>C
NR_144378.1   n.-1956A>G
rs3853250

Strand:    Allele origin:   Allele change: A/C   Mutation type: snp

CM000668.2   g.151838765T>G
NC_000006.11   g.152159900T>G
NC_000006.12   g.151838765T>G
NG_008493.2   g.187075T>G
NM_000125.3   c.453-3832T>G
NM_001122740.1   c.453-3832T>G
NM_001122741.1   c.453-3832T>G
NM_001122742.1   c.453-3832T>G
NM_001291230.1   c.453-3832T>G
NM_001291241.1   c.453-3832T>G
NM_001328100.1   c.-67-3832T>G
XR_001743222.1   n.823-3832T>G
XR_001743223.1   n.823-3832T>G
rs3853251

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000668.2   g.151839621A>G
NC_000006.11   g.152160756A>G
NC_000006.12   g.151839621A>G
NG_008493.2   g.187931A>G
NM_000125.3   c.453-2976A>G
NM_001122740.1   c.453-2976A>G
NM_001122741.1   c.453-2976A>G
NM_001122742.1   c.453-2976A>G
NM_001291230.1   c.453-2976A>G
NM_001291241.1   c.453-2976A>G
NM_001328100.1   c.-67-2976A>G
XR_001743222.1   n.823-2976A>G
XR_001743223.1   n.823-2976A>G
rs3761959

Strand: -   Allele origin: unknown  Allele change: A/G   Mutation type: snp

  
NC_000001.10   g.157669278C>T
NC_000001.11   g.157699488C>T
NG_023241.1   g.6370G>A
NM_001320333.1   c.52+204G>A
NM_052939.3   c.52+204G>A
NR_135217.1   n.359+204G>A
NR_135216.1   n.359+204G>A
NR_135215.1   n.359+204G>A
NR_135214.1   n.359+204G>A
XM_005244872.1   c.52+204G>
rs3783525

Strand: -   Allele origin: unknown  Allele change: A/T   Mutation type: snp

  
NC_000002.12   g.112784242T>A
NC_000002.11   g.113541819T>A
NG_008850.1   g.6153A>T
NM_000575.4   c.-9+201A>T
rs3783550

Strand: -   Allele origin: unknown  Allele change: A/C   Mutation type: snp

  
NC_000002.11   g.113532885G>T
NC_000002.12   g.112775308G>T
NG_008850.1   g.15087C>A
NM_000575.4   c.616-41C>A
rs3783553

Strand: -   Allele origin: unknown  Allele change: -/TTCA   Mutation type: in-del

NC_000002.12   g.112774138_112774139insTGAA
NC_000002.11   g.113531715_113531716insTGAA
NG_008850.1   g.16256_16257insTTCA
NM_000575.4   c.*928_*929insTTCA
  
rs4645843

Strand:    Allele origin:   Allele change: C/G/T   Mutation type: snp

CM000668.2   g.31576785C>G
CM000668.2   g.31576785C>T
NC_000006.11   g.31544562C>T
NC_000006.12   g.31576785C>G
NC_000006.12   g.31576785C>T
NG_007462.1   g.6213C>G
NG_007462.1   g.6213C>T
NM_000594.3   c.251C>G
NM_000594.3   c.251C>T
NP_000585.2   p.Pro84Arg
NP_000585.2   p.Pro84Leu
NT_113891.2   g.3054178C>T
NT_113891.3   g.3054072C>G
NT_113891.3   g.3054072C>T
NT_167244.1   g.2859280C>T
NT_167244.2   g.2909364C>G
NT_167244.2   g.2909364C>T
NT_167245.1   g.2830103C>T
NT_167245.2   g.2824518C>G
NT_167245.2   g.2824518C>T
NT_167246.1   g.2887446C>T
NT_167246.2   g.2881826C>G
NT_167246.2   g.2881826C>T
NT_167247.1   g.2924268C>T
NT_167247.2   g.2918683C>G
NT_167247.2   g.2918683C>T
NT_167248.1   g.2838202C>T
NT_167248.2   g.2832606C>G
NT_167248.2   g.2832606C>T
NT_167249.1   g.2875363C>T
NT_167249.2   g.2876065C>G
NT_167249.2   g.2876065C>T
rs4680

Strand:    Allele origin: G(germline)/A(germline)  Allele change: A/G   Mutation type: snp

CM000684.2   g.19963748G>A
NC_000022.10   g.19951271G>A
NC_000022.11   g.19963748G>A
NG_011526.1   g.27009G>A
NM_000754.3   c.472G>A
NM_001135161.1   c.472G>A
NM_001135162.1   c.472G>A
NM_007310.2   c.322G>A
NP_000745.1   p.Val158Met
NP_001128633.1   p.Val158Met
NP_001128634.1   p.Val158Met
NP_009294.1   p.Val108Met
NR_039918.1   n.-5G>A
XP_005261286.1   p.Val158Met
XP_011528188.1   p.Val196Met
XP_016884083.1   p.Val158Met
XP_016884084.1   p.Val158Met
Clinical Significance: drug-response

rs478839

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000672.2   g.87972113A>G
NC_000010.10   g.89731870A>G
NC_000010.11   g.87972113A>G
NG_007466.2   g.113675A>G
NM_000314.6   c.*6641A>G
NM_001304717.2   c.*6641A>G
NM_001304718.1   c.*6641A>G
NW_013171807.1   g.187902A>G
XR_001747530.1   n.1826T>C
XR_001756933.1   n.1826T>C
rs4837864

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000671.2   g.116782154T>C
NC_000009.11   g.119544433T>C
NC_000009.12   g.116782154T>C
NG_021409.1   g.637885A>G
NM_014010.4   c.2243+23478A>G
rs4986938

Strand: -   Allele origin: unknown  Allele change: A/G   Mutation type: snp

NG_011535.1   g.110453G>A
NC_000014.9   g.64233098C>T
NC_000014.8   g.64699816C>T
NM_001040275.1   c.1406+1872G>A
NM_001214902.1   c.1406+1872G>A
NM_001271876.1   c.1406+1872G>A
NM_001271877.1   c.*39G>A
NM_001291723.1   c.1406+1872G>A
NM_001291712.1   c.1406+1872G>A
NM_00  
rs7354779

Strand: +   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000021.8   g.45670770T>C
NC_000021.9   g.44250887T>C
NM_013369.3   c.832A>G
NR_135514.1   n.75T>C
NP_787063.1   p.Arg278Gly
NP_037501.2   p.Arg278Gly
NM_175867.2   c.832A>G
rs4977756

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000671.2   g.22068653G>A
NC_000009.11   g.22068652G>A
NC_000009.12   g.22068653G>A
NR_003529.3   n.2448+2300G>A
NR_047532.1   n.1075+12266G>A
NR_047533.1   n.645-9026G>A
NR_047534.1   n.644+19425G>A
NR_047535.1   n.780+12266G>A
NR_047536.1   n.644+19425G>A
NR_047537.1   n.780+12266G>A
NR_047538.1   n.644+19425G>A
NR_047539.1   n.2448+2300G>A
NR_047540.1   n.1048+2300G>A
NR_047541.1   n.855+4635G>A
NR_047542.1   n.781-9026G>A
NR_047543.1   n.780+12266G>A
NR_120536.1   n.644+19425G>A
rs7528684

Strand: +   Allele origin: unknown  Allele change: A/G   Mutation type: snp

  
NC_000001.10   g.157670816A>G
NC_000001.11   g.157701026A>G
NG_023241.1   g.4832T>C
NM_001320333.1   c.-461T>C
NM_052939.3   c.-461T>C
NR_135216.1   n.-154T>C
NR_135215.1   n.-154T>C
NR_135217.1   n.-154T>C
NR_135214.1   n.-154T>C
XM_005244871.1   c.-263T>C
XM_005244872.1   c
rs500760

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000673.2   g.101039260T>C
NC_000011.10   g.101039260T>C
NC_000011.9   g.100909991T>C
NG_016475.1   g.95554A>G
NM_000926.4   c.2658A>G
NM_001202474.3   c.2166A>G
NM_001271161.2   c.1860A>G
NM_001271162.1   c.876A>G
NP_000917.3   p.Gln886=
NP_001189403.1   p.Gln722=
NP_001258090.1   p.Gln620=
NP_001258091.1   p.Gln292=
NR_073141.2   n.2599A>G
NR_073142.2   n.2482A>G
NR_073143.2   n.2214A>G
rs532678

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000672.2   g.87963585C>T
NC_000010.10   g.89723342C>T
NC_000010.11   g.87963585C>T
NG_007466.2   g.105147C>T
NM_000314.4   c.1027-1702C>T
NM_000314.6   c.1027-1702C>T
NM_001304717.2   c.1546-1702C>T
NM_001304718.1   c.436-1702C>T
NW_013171807.1   g.179374C>T
rs555895

Strand:    Allele origin:   Allele change: G/T   Mutation type: snp

CM000672.2   g.87961150T>G
NC_000010.10   g.89720907T>G
NC_000010.11   g.87961150T>G
NG_007466.2   g.102712T>G
NM_000314.4   c.1026+32T>G
NM_000314.6   c.1026+32T>G
NM_001304717.2   c.1545+32T>G
NM_001304718.1   c.435+32T>G
NW_013171807.1   g.176939T>G
Clinical Significance: Benign

rs6165

Strand:    Allele origin: G(germline)/A(germline)  Allele change: A/C/G   Mutation type: snp

CM000664.2   g.48963902C>G
CM000664.2   g.48963902C>T
NC_000002.11   g.49191041C>T
NC_000002.12   g.48963902C>G
NC_000002.12   g.48963902C>T
NG_008146.1   g.195590G>A
NG_008146.1   g.195590G>C
NM_000145.3   c.919G>A
NM_000145.3   c.919G>C
NM_181446.2   c.841G>A
NM_181446.2   c.841G>C
NP_000136.2   p.Ala307Pro
NP_000136.2   p.Ala307Thr
NP_852111.2   p.Ala281Pro
NP_852111.2   p.Ala281Thr
XP_005264299.1   p.Ala245Thr
XP_005264300.1   p.Ala43Thr
XP_011531035.1   p.Ala341Pro
XP_011531035.1   p.Ala341Thr
XP_011531036.1   p.Ala230Pro
XP_011531036.1   p.Ala230Thr
XP_011531037.1   p.Ala43Pro
XP_011531037.1   p.Ala43Thr
XP_011531038.1   p.Ala43Pro
XP_011531038.1   p.Ala43Thr
Clinical Significance: drug-response

rs8129776

Strand: +   Allele origin: unknown  Allele change: A/G   Mutation type: snp

  
NC_000021.9   g.44249746G>A
NC_000021.8   g.45669629G>A
NM_013369.3   c.910-635C>T
NR_135514.1   n.-1067G>A
NM_175867.2   c.910-635C>T
  
rs6166

Strand:    Allele origin: G(germline)/A(germline)  Allele change: A/G   Mutation type: snp

CM000664.2   g.48962782C>T
NC_000002.11   g.49189921C>T
NC_000002.12   g.48962782C>T
NG_008146.1   g.196710G>A
NM_000145.3   c.2039G>A
NM_181446.2   c.1961G>A
NP_000136.2   p.Ser680Asn
NP_852111.2   p.Ser654Asn
XP_005264299.1   p.Ser618Asn
XP_005264300.1   p.Ser416Asn
XP_011531035.1   p.Ser714Asn
XP_011531036.1   p.Ser603Asn
XP_011531037.1   p.Ser416Asn
XP_011531038.1   p.Ser416Asn
Clinical Significance: drug-response

rs6167

Strand:    Allele origin:   Allele change: A/C/G   Mutation type: snp

CM000664.2   g.48963249G>C
CM000664.2   g.48963249G>T
NC_000002.11   g.49190388G>C
NC_000002.11   g.49190388G>T
NC_000002.12   g.48963249G>C
NC_000002.12   g.48963249G>T
NG_008146.1   g.196243C>A
NG_008146.1   g.196243C>G
NM_000145.3   c.1572C>A
NM_000145.3   c.1572C>G
NM_181446.2   c.1494C>A
NM_181446.2   c.1494C>G
NP_000136.2   p.Ser524Arg
NP_852111.2   p.Ser498Arg
XP_005264299.1   p.Ser462Arg
XP_005264300.1   p.Ser260Arg
XP_011531035.1   p.Ser558Arg
XP_011531036.1   p.Ser447Arg
XP_011531037.1   p.Ser260Arg
XP_011531038.1   p.Ser260Arg
rs6267

Strand:    Allele origin: G(germline)/T(germline)  Allele change: A/G/T   Mutation type: snp

CM000684.2   g.19962740G>A
CM000684.2   g.19962740G>T
NC_000022.10   g.19950263G>A
NC_000022.10   g.19950263G>T
NC_000022.11   g.19962740G>A
NC_000022.11   g.19962740G>T
NG_011526.1   g.26001G>A
NG_011526.1   g.26001G>T
NM_000754.3   c.214G>A
NM_000754.3   c.214G>T
NM_001135161.1   c.214G>A
NM_001135161.1   c.214G>T
NM_001135162.1   c.214G>A
NM_001135162.1   c.214G>T
NM_007310.2   c.64G>A
NM_007310.2   c.64G>T
NP_000745.1   p.Ala72Ser
NP_000745.1   p.Ala72Thr
NP_001128633.1   p.Ala72Ser
NP_001128633.1   p.Ala72Thr
NP_001128634.1   p.Ala72Ser
NP_001128634.1   p.Ala72Thr
NP_009294.1   p.Ala22Ser
NP_009294.1   p.Ala22Thr
NR_039918.1   n.-1013G>A
NR_039918.1   n.-1013G>T
XP_005261286.1   p.Ala72Ser
XP_005261286.1   p.Ala72Thr
XP_011528188.1   p.Ala110Ser
XP_011528188.1   p.Ala110Thr
XP_016884083.1   p.Ala72Ser
XP_016884083.1   p.Ala72Thr
XP_016884084.1   p.Ala72Ser
XP_016884084.1   p.Ala72Thr
Clinical Significance: other

rs6475606

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000671.2   g.22081851C>T
NC_000009.11   g.22081850C>T
NC_000009.12   g.22081851C>T
NR_003529.3   n.2449-14521C>T
NR_047532.1   n.1076-10457C>T
NR_047534.1   n.645-15407C>T
NR_047535.1   n.780+25464C>T
NR_047536.1   n.645-30469C>T
NR_047537.1   n.780+25464C>T
NR_047538.1   n.644+32623C>T
NR_047543.1   n.780+25464C>T
NR_120536.1   n.644+32623C>T
rs6557171

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000668.2   g.151913458T>A
CM000668.2   g.151913458T>C
NC_000006.11   g.152234593T>C
NC_000006.12   g.151913458T>A
NC_000006.12   g.151913458T>C
NG_008493.2   g.261768T>A
NG_008493.2   g.261768T>C
NM_000125.3   c.761-30715T>A
NM_000125.3   c.761-30715T>C
NM_001122740.1   c.761-30715T>A
NM_001122740.1   c.761-30715T>C
NM_001122741.1   c.761-30715T>A
NM_001122741.1   c.761-30715T>C
NM_001122742.1   c.761-30715T>A
NM_001122742.1   c.761-30715T>C
NM_001291230.1   c.767-30715T>A
NM_001291230.1   c.767-30715T>C
NM_001291241.1   c.758-30715T>A
NM_001291241.1   c.758-30715T>C
NM_001328100.1   c.242-30715T>A
NM_001328100.1   c.242-30715T>C
XR_001743222.1   n.1131-30715T>A
XR_001743222.1   n.1131-30715T>C
XR_001743223.1   n.1131-30715T>A
XR_001743223.1   n.1131-30715T>C
rs699947

Strand:    Allele origin: A(germline)/C(germline)  Allele change: A/C/T   Mutation type: snp

CM000668.2   g.43768652A>C
CM000668.2   g.43768652A>T
NC_000006.11   g.43736389A>C
NC_000006.12   g.43768652A>C
NC_000006.12   g.43768652A>T
NG_008732.1   g.3437A>C
NG_008732.1   g.3437A>T
NM_001025366.2   c.-2055A>C
NM_001025366.2   c.-2055A>T
NM_001025367.2   c.-2055A>C
NM_001025367.2   c.-2055A>T
NM_001025368.2   c.-2055A>C
NM_001025368.2   c.-2055A>T
NM_001025369.2   c.-2055A>C
NM_001025369.2   c.-2055A>T
NM_001025370.2   c.-2055A>C
NM_001025370.2   c.-2055A>T
NM_001033756.2   c.-2055A>C
NM_001033756.2   c.-2055A>T
NM_001171622.1   c.-2055A>C
NM_001171622.1   c.-2055A>T
NM_001171623.1   c.-2595A>C
NM_001171623.1   c.-2595A>T
NM_001171624.1   c.-2595A>C
NM_001171624.1   c.-2595A>T
NM_001171625.1   c.-2595A>C
NM_001171625.1   c.-2595A>T
NM_001171626.1   c.-2595A>C
NM_001171626.1   c.-2595A>T
NM_001171627.1   c.-2595A>C
NM_001171627.1   c.-2595A>T
NM_001171628.1   c.-2595A>C
NM_001171628.1   c.-2595A>T
NM_001171629.1   c.-2595A>C
NM_001171629.1   c.-2595A>T
NM_001171630.1   c.-2595A>C
NM_001171630.1   c.-2595A>T
NM_001204384.1   c.-2595A>C
NM_001204384.1   c.-2595A>T
NM_001204385.1   c.-2055A>C
NM_001204385.1   c.-2055A>T
NM_001317010.1   c.-2595A>C
NM_001317010.1   c.-2595A>T
NM_003376.5   c.-2055A>C
NM_003376.5   c.-2055A>T
Clinical Significance: other

rs701848

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000672.2   g.87966988T>C
NC_000010.10   g.89726745T>C
NC_000010.11   g.87966988T>C
NG_007466.2   g.108550T>C
NM_000314.4   c.*1516T>C
NM_000314.6   c.*1516T>C
NM_001304717.2   c.*1516T>C
NM_001304718.1   c.*1516T>C
NW_013171807.1   g.182777T>C
Clinical Significance: Benign

rs703411

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000672.2   g.117541071C>T
NC_000010.10   g.119300582C>T
NC_000010.11   g.117541071C>T
NG_013009.1   g.3627C>T
NM_001165924.1   c.-2197C>T
NM_004098.3   c.-2197C>T
NR_002791.2   n.574+3235G>A
NR_144378.1   n.493+1026G>A
rs10895068

Strand: -   Allele origin: unknown  Allele change: A/G   Mutation type: snp

NC_000011.9   g.101000214C>T
NC_000011.10   g.101129483C>T
NM_001271161.2   c.-905G>A
NM_001271162.1   c.-201G>A
NG_016475.1   g.5331G>A
NM_000926.4   c.-413G>A
NM_001202474.3   c.-905G>A
NR_073141.2   n.-420G>A
NR_073142.2   n.-420G>A
NR_073143.2   n.-420G>A
NR_073144.1   n.4
rs731236

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000674.2   g.47844974A>G
NC_000012.11   g.48238757A>G
NC_000012.12   g.47844974A>G
NG_008731.1   g.65058T>C
NM_000376.2   c.1056T>C
NM_001017535.1   c.1056T>C
NM_001017536.1   c.1206T>C
NP_000367.1   p.Ile352=
NP_001017535.1   p.Ile352=
NP_001017536.1   p.Ile402=
XP_006719650.1   p.Ile352=
XP_011537022.1   p.Ile352=
Clinical Significance: Likely benign

rs740734

Strand:    Allele origin:   Allele change: C/G   Mutation type: snp

CM000672.2   g.117547867G>C
NC_000010.10   g.119307378G>C
NC_000010.11   g.117547867G>C
NG_013009.1   g.10423G>C
NM_001165924.1   c.407-198G>C
NM_004098.3   c.592-198G>C
rs7865618

Strand:    Allele origin:   Allele change: A/G/T   Mutation type: snp

CM000671.2   g.22031006G>A
CM000671.2   g.22031006G>T
NC_000009.11   g.22031005G>A
NC_000009.12   g.22031006G>A
NC_000009.12   g.22031006G>T
NR_003529.3   n.533+1412G>A
NR_003529.3   n.533+1412G>T
NR_047532.1   n.533+1412G>A
NR_047532.1   n.533+1412G>T
NR_047533.1   n.372-15745G>A
NR_047533.1   n.372-15745G>T
NR_047534.1   n.372-15745G>A
NR_047534.1   n.372-15745G>T
NR_047535.1   n.372-15745G>A
NR_047535.1   n.372-15745G>T
NR_047536.1   n.372-15745G>A
NR_047536.1   n.372-15745G>T
NR_047537.1   n.372-15745G>A
NR_047537.1   n.372-15745G>T
NR_047538.1   n.372-15745G>A
NR_047538.1   n.372-15745G>T
NR_047539.1   n.533+1412G>A
NR_047539.1   n.533+1412G>T
NR_047540.1   n.372-15745G>A
NR_047540.1   n.372-15745G>T
NR_047541.1   n.372-15745G>A
NR_047541.1   n.372-15745G>T
NR_047542.1   n.372-15745G>A
NR_047542.1   n.372-15745G>T
NR_047543.1   n.372-15745G>A
NR_047543.1   n.372-15745G>T
NR_120536.1   n.372-15745G>A
NR_120536.1   n.372-15745G>T
rs7975232

Strand:    Allele origin:   Allele change: A/C   Mutation type: snp

CM000674.2   g.47845054C>A
NC_000012.11   g.48238837C>A
NC_000012.12   g.47845054C>A
NG_008731.1   g.64978G>T
NM_000376.2   c.1025-49G>T
NM_001017535.1   c.1025-49G>T
NM_001017536.1   c.1175-49G>T
rs12720270

Strand: -   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000019.10   g.10365084G>A
NC_000019.9   g.10475760G>A
NG_007872.1   g.20489C>T
NM_003331.4   c.1012-36C>T
XM_005260049.1   c.1012-36C>T
XM_011528252.1   c.1012-36C>T
XM_011528251.1   c.-649C>T
XM_011528246.2   c.715-36C>T
XM_011528247.1   c.715-36C>T
XM_011528249.2   c.-9
rs12720356

Strand: -   Allele origin: unknown  Allele change: G/T   Mutation type: snp

NC_000019.10   g.10359299A>C
NC_000019.9   g.10469975A>C
NG_007872.1   g.26274T>G
NM_003331.4   c.2051T>G
NP_003322.3   p.Ile684Ser
XM_005260049.1   c.2051T>G
XM_011528249.2   c.725T>G
XM_011528251.1   c.308T>G
XM_011528245.1   c.2051T>G
XM_011528247.1   c.1754T>G
XM_0115282  
Clinical Significance: Likely benign

rs8191136

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000678.2   g.82068265G>A
NC_000016.10   g.82068265G>A
NC_000016.9   g.82101870G>A
NM_002153.2   c.361G>A
NP_002144.1   p.Ala121Thr
XR_001751898.1   n.549G>A
XR_243405.1   n.549G>A
rs8191246

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000678.2   g.82098435A>G
NC_000016.10   g.82098435A>G
NC_000016.9   g.82132040A>G
NM_002153.2   c.1163A>G
NP_002144.1   p.Ter388Trp
XR_001751898.1   n.1420A>G
rs8192640

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000672.2   g.117545494C>T
NC_000010.10   g.119305005C>T
NC_000010.11   g.117545494C>T
NG_013009.1   g.8050C>T
NM_001165924.1   c.406+1821C>T
NM_004098.3   c.407-138C>T
NR_002791.2   n.-426G>A
rs855768

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000672.2   g.117547956G>A
NC_000010.10   g.119307467G>A
NC_000010.11   g.117547956G>A
NG_013009.1   g.10512G>A
NM_001165924.1   c.407-109G>A
NM_004098.3   c.592-109G>A
rs855769

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000672.2   g.117544585A>G
NC_000010.10   g.119304096A>G
NC_000010.11   g.117544585A>G
NG_013009.1   g.7141A>G
NM_001165924.1   c.406+912A>G
NM_004098.3   c.406+912A>G
NR_002791.2   n.484T>C
NR_144378.1   n.-1996T>C
rs926091

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000672.2   g.87961655C>T
NC_000010.10   g.89721412C>T
NC_000010.11   g.87961655C>T
NG_007466.2   g.103217C>T
NM_000314.4   c.1026+537C>T
NM_000314.6   c.1026+537C>T
NM_001304717.2   c.1545+537C>T
NM_001304718.1   c.435+537C>T
NW_013171807.1   g.177444C>T
rs9322331

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000668.2   g.151841182C>T
NC_000006.11   g.152162317C>G
NC_000006.11   g.152162317C>T
NC_000006.12   g.151841182C>T
NG_008493.2   g.189492C>G
NG_008493.2   g.189492C>T
NM_000125.3   c.453-1415C>G
NM_000125.3   c.453-1415C>T
NM_001122740.1   c.453-1415C>G
NM_001122740.1   c.453-1415C>T
NM_001122741.1   c.453-1415C>G
NM_001122741.1   c.453-1415C>T
NM_001122742.1   c.453-1415C>G
NM_001122742.1   c.453-1415C>T
NM_001291230.1   c.453-1415C>G
NM_001291230.1   c.453-1415C>T
NM_001291241.1   c.453-1415C>G
NM_001291241.1   c.453-1415C>T
NM_001328100.1   c.-67-1415C>G
NM_001328100.1   c.-67-1415C>T
XR_001743222.1   n.823-1415C>T
XR_001743223.1   n.823-1415C>T
rs9340773

Strand:    Allele origin:   Allele change: A/C/G   Mutation type: snp

CM000668.2   g.151808141G>A
CM000668.2   g.151808141G>C
NC_000006.11   g.152129276G>A
NC_000006.12   g.151808141G>A
NC_000006.12   g.151808141G>C
NG_008493.2   g.156451G>A
NG_008493.2   g.156451G>C
NM_000125.3   c.229G>A
NM_000125.3   c.229G>C
NM_001122740.1   c.229G>A
NM_001122740.1   c.229G>C
NM_001122741.1   c.229G>A
NM_001122741.1   c.229G>C
NM_001122742.1   c.229G>A
NM_001122742.1   c.229G>C
NM_001291230.1   c.229G>A
NM_001291230.1   c.229G>C
NM_001291241.1   c.229G>A
NM_001291241.1   c.229G>C
NM_001328100.1   c.-1198G>A
NM_001328100.1   c.-1198G>C
NP_000116.2   p.Gly77Arg
NP_000116.2   p.Gly77Ser
NP_001116212.1   p.Gly77Arg
NP_001116212.1   p.Gly77Ser
NP_001116213.1   p.Gly77Arg
NP_001116213.1   p.Gly77Ser
NP_001116214.1   p.Gly77Arg
NP_001116214.1   p.Gly77Ser
NP_001278159.1   p.Gly77Arg
NP_001278159.1   p.Gly77Ser
NP_001278170.1   p.Gly77Arg
NP_001278170.1   p.Gly77Ser
XP_005266913.1   p.Gly77Ser
XP_005266914.1   p.Gly77Ser
XP_006715437.1   p.Gly77Arg
XP_006715437.1   p.Gly77Ser
XP_011533845.1   p.Gly77Arg
XP_011533845.1   p.Gly77Ser
XP_011533846.1   p.Gly77Arg
XP_011533846.1   p.Gly77Ser
XP_011533847.1   p.Gly77Arg
XP_011533847.1   p.Gly77Ser
XP_011533849.1   p.Gly77Arg
XP_011533849.1   p.Gly77Ser
XP_016865865.1   p.Gly77Arg
XP_016865865.1   p.Gly77Ser
XP_016865866.1   p.Gly77Arg
XP_016865866.1   p.Gly77Ser
XP_016865867.1   p.Gly77Arg
XP_016865867.1   p.Gly77Ser
XP_016865868.1   p.Gly77Arg
XP_016865868.1   p.Gly77Ser
XP_016865869.1   p.Gly77Arg
XP_016865869.1   p.Gly77Ser
XP_016865870.1   p.Gly77Arg
XP_016865870.1   p.Gly77Ser
XR_001743222.1   n.599G>A
XR_001743222.1   n.599G>C
XR_001743223.1   n.599G>A
XR_001743223.1   n.599G>C
rs9340799

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000668.2   g.151842246A>G
NC_000006.11   g.152163381A>G
NC_000006.12   g.151842246A>G
NG_008493.2   g.190556A>G
NM_000125.3   c.453-351A>G
NM_001122740.1   c.453-351A>G
NM_001122741.1   c.453-351A>G
NM_001122742.1   c.453-351A>G
NM_001291230.1   c.453-351A>G
NM_001291241.1   c.453-351A>G
NM_001328100.1   c.-67-351A>G
XR_001743222.1   n.823-351A>G
XR_001743223.1   n.823-351A>G
rs9434741

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000663.2   g.6157799A>G
NC_000001.10   g.6217859A>G
NC_000001.11   g.6157799A>G
NM_015557.2   c.387+1537T>C
rs944052

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000676.2   g.64339114G>A
NC_000014.8   g.64805832G>A
NC_000014.9   g.64339114G>A
NG_011535.1   g.4437C>T
NM_001291712.1   c.-2292C>T
NM_001291723.1   c.-1307C>T
NR_073496.1   n.-564C>T
NR_073505.1   n.-564C>T
rs944797

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000671.2   g.22115287T>C
NC_000009.11   g.22115286T>C
NC_000009.11   g.22115286T>G
NC_000009.12   g.22115287T>C
NR_003529.3   n.2908+1488T>C
NR_003529.3   n.2908+1488T>G
NR_047532.1   n.1697+1488T>C
NR_047532.1   n.1697+1488T>G
NR_047534.1   n.961+1488T>C
NR_047534.1   n.961+1488T>G
NR_047535.1   n.856+2892T>C
NR_047535.1   n.856+2892T>G
NR_047536.1   n.720+2892T>C
NR_047536.1   n.720+2892T>G
NR_047537.1   n.781-4913T>C
NR_047537.1   n.781-4913T>G
NR_047538.1   n.645-4913T>C
NR_047538.1   n.645-4913T>G
NR_047543.1   n.990+1488T>C
NR_047543.1   n.990+1488T>G
NR_120536.1   n.645-5217T>C
NR_120536.1   n.645-5217T>G
rs9582036

Strand:    Allele origin:   Allele change: A/C   Mutation type: snp

CM000675.2   g.28311271C>A
NC_000013.10   g.28885408C>A
NC_000013.11   g.28311271C>A
NG_012003.1   g.188858G>T
NM_002019.4   c.3635+319G>T
rs34536443

Strand: +   Allele origin: germline,germline  Allele change: C/G   Mutation type: snp

  
NG_007872.1   g.33131C>G
NC_000019.10   g.10352442G>C
NC_000019.9   g.10463118G>C
NM_003331.4   c.3310C>G
NP_003322.3   p.Pro1104Ala
XM_005260049.1   c.3310C>G
XM_011528245.1   c.3310C>G
XM_011528246.2   c.3013C>G
XM_011528249.2   c.1984C>G
XM_011528247.1   c.3013C>G
XM_011  
Clinical Significance: Likely benign

Protein Summary

Protein general information P01023  

Name: Alpha 2 macroglobulin (Alpha 2 M) (C3 and PZP like alpha 2 macroglobulin domain containing protein 5)

Length: 1474  Mass: 163,291

Tissue specificity: Secreted in plasma. {ECO

Sequence MGKNKLLHPSLVLLLLVLLPTDASVSGKPQYMVLVPSLLHTETTEKGCVLLSYLNETVTVSASLESVRGNRSLFT
DLEAENDVLHCVAFAVPKSSSNEEVMFLTVQVKGPTQEFKKRTTVMVKNEDSLVFVQTDKSIYKPGQTVKFRVVS
MDENFHPLNELIPLVYIQDPKGNRIAQWQSFQLEGGLKQFSFPLSSEPFQGSYKVVVQKKSGGRTEHPFTVEEFV
LPKFEVQVTVPKIITILEEEMNVSVCGLYTYGKPVPGHVTVSICRKYSDASDCHGEDSQAFCEKFSGQLNSHGCF
YQQVKTKVFQLKRKEYEMKLHTEAQIQEEGTVVELTGRQSSEITRTITKLSFVKVDSHFRQGIPFFGQVRLVDGK
GVPIPNKVIFIRGNEANYYSNATTDEHGLVQFSINTTNVMGTSLTVRVNYKDRSPCYGYQWVSEEHEEAHHTAYL
VFSPSKSFVHLEPMSHELPCGHTQTVQAHYILNGGTLLGLKKLSFYYLIMAKGGIVRTGTHGLLVKQEDMKGHFS
ISIPVKSDIAPVARLLIYAVLPTGDVIGDSAKYDVENCLANKVDLSFSPSQSLPASHAHLRVTAAPQSVCALRAV
DQSVLLMKPDAELSASSVYNLLPEKDLTGFPGPLNDQDNEDCINRHNVYINGITYTPVSSTNEKDMYSFLEDMGL
KAFTNSKIRKPKMCPQLQQYEMHGPEGLRVGFYESDVMGRGHARLVHVEEPHTETVRKYFPETWIWDLVVVNSAG
VAEVGVTVPDTITEWKAGAFCLSEDAGLGISSTASLRAFQPFFVELTMPYSVIRGEAFTLKATVLNYLPKCIRVS
VQLEASPAFLAVPVEKEQAPHCICANGRQTVSWAVTPKSLGNVNFTVSAEALESQELCGTEVPSVPEHGRKDTVI
KPLLVEPEGLEKETTFNSLLCPSGGEVSEELSLKLPPNVVEESARASVSVLGDILGSAMQNTQNLLQMPYGCGEQ
NMVLFAPNIYVLDYLNETQQLTPEIKSKAIGYLNTGYQRQLNYKHYDGSYSTFGERYGRNQGNTWLTAFVLKTFA
QARAYIFIDEAHITQALIWLSQRQKDNGCFRSSGSLLNNAIKGGVEDEVTLSAYITIALLEIPLTVTHPVVRNAL
FCLESAWKTAQEGDHGSHVYTKALLAYAFALAGNQDKRKEVLKSLNEEAVKKDNSVHWERPQKPKAPVGHFYEPQ
APSAEVEMTSYVLLAYLTAQPAPTSEDLTSATNIVKWITKQQNAQGGFSSTQDTVVALHALSKYGAATFTRTGKA
AQVTIQSSGTFSSKFQVDNNNRLLLQQVSLPELPGEYSMKVTGEGCVYLQTSLKYNILPEKEEFPFALGVQTLPQ
TCDEPKAHTSFQISLSVSYTGSRSASNMAIVDVKMVSGFIPLKPTVKMLERSNHVSRTEVSSNHVLIYLDKVSNQ
TLSLFFTVLQDVPVRDLKPAIVKVYDYYETDEFAIAEYNAPCSKDLGNA
Structural information
Interpro:  IPR009048 IPR011626 IPR002890 IPR011625 IPR013783 IPR014756 IPR001599 IPR019742 IPR019565 IPR008930 IPR010916
Prosite:   PS00477

Pfam:  
PF00207 PF07678 PF01835 PF07703 PF07677 PF10569

PDB:  
1BV8 2P9R 4ACQ
PDBsum:   1BV8 2P9R 4ACQ

DIP:  
1118
MINT:   122288
STRING:   ENSP00000323929;
Other Databases GeneCards:  A2M;  Malacards:  A2M

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001869 negative regulation of co
mplement activation, lect
in pathway
IDA biological_process
GO:0002020 protease binding
IPI molecular_function
GO:0002576 platelet degranulation
TAS biological_process
GO:0004867 serine-type endopeptidase
inhibitor activity
IDA molecular_function
GO:0005096 GTPase activator activity
TAS molecular_function
GO:0005102 receptor binding
IMP molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
NAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0007597 blood coagulation, intrin
sic pathway
TAS biological_process
GO:0010951 negative regulation of en
dopeptidase activity
IEA biological_process
GO:0019838 growth factor binding
IDA molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019959 interleukin-8 binding
IPI molecular_function
GO:0019966 interleukin-1 binding
IDA molecular_function
GO:0022617 extracellular matrix disa
ssembly
TAS biological_process
GO:0031093 platelet alpha granule lu
men
TAS cellular_component
GO:0043120 tumor necrosis factor bin
ding
IDA molecular_function
GO:0043547 positive regulation of GT
Pase activity
IEA biological_process
GO:0048306 calcium-dependent protein
binding
IPI molecular_function
GO:0048863 stem cell differentiation
IEA biological_process
GO:0051056 regulation of small GTPas
e mediated signal transdu
ction
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0072562 blood microparticle
IDA cellular_component
GO:0001869 negative regulation of co
mplement activation, lect
in pathway
IDA biological_process
GO:0002020 protease binding
IPI molecular_function
GO:0002576 platelet degranulation
TAS biological_process
GO:0004866 endopeptidase inhibitor a
ctivity
IEA molecular_function
GO:0004867 serine-type endopeptidase
inhibitor activity
IEA molecular_function
GO:0004867 serine-type endopeptidase
inhibitor activity
IDA molecular_function
GO:0005096 GTPase activator activity
TAS molecular_function
GO:0005102 receptor binding
IMP molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
NAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0007597 blood coagulation, intrin
sic pathway
TAS biological_process
GO:0010466 negative regulation of pe
ptidase activity
IEA biological_process
GO:0010951 negative regulation of en
dopeptidase activity
IEA biological_process
GO:0019838 growth factor binding
IDA molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019959 interleukin-8 binding
IPI molecular_function
GO:0019966 interleukin-1 binding
IDA molecular_function
GO:0022617 extracellular matrix disa
ssembly
TAS biological_process
GO:0030414 peptidase inhibitor activ
ity
IEA molecular_function
GO:0031093 platelet alpha granule lu
men
TAS cellular_component
GO:0043120 tumor necrosis factor bin
ding
IDA molecular_function
GO:0043547 positive regulation of GT
Pase activity
IEA biological_process
GO:0048306 calcium-dependent protein
binding
IPI molecular_function
GO:0048863 stem cell differentiation
IEA biological_process
GO:0051056 regulation of small GTPas
e mediated signal transdu
ction
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0072562 blood microparticle
IDA cellular_component
GO:0001869 negative regulation of co
mplement activation, lect
in pathway
IDA biological_process
GO:0002020 protease binding
IPI molecular_function
GO:0002576 platelet degranulation
TAS biological_process
GO:0004867 serine-type endopeptidase
inhibitor activity
IDA molecular_function
GO:0005096 GTPase activator activity
TAS molecular_function
GO:0005102 receptor binding
IMP molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
NAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0007597 blood coagulation, intrin
sic pathway
TAS biological_process
GO:0019838 growth factor binding
IDA molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0019959 interleukin-8 binding
IPI molecular_function
GO:0019966 interleukin-1 binding
IDA molecular_function
GO:0022617 extracellular matrix disa
ssembly
TAS biological_process
GO:0031093 platelet alpha granule lu
men
TAS cellular_component
GO:0043120 tumor necrosis factor bin
ding
IDA molecular_function
GO:0048306 calcium-dependent protein
binding
IPI molecular_function
GO:0051056 regulation of small GTPas
e mediated signal transdu
ction
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0072562 blood microparticle
IDA cellular_component

KEGG pathways

hsa04610  Complement and coagulation cascades

Diseases

Associated diseases References
Alzheimer's disease PMID: 11099722
Arthritis PMID: 11981324
Cerebral amyloid angiopathy
Diabetes PMID: 11793025
Endometriosis PMID: 2454848
Male infertility PMID: 8981132
Maturation of spermatozoa PMID: 8981132
Multiple sclerosis PMID: 11498265
Myocardial infarction PMID: 18382889
Parkinson's disease PMID: 10943700
Progressive motility PMID: 8981132
Endometriosis associated infertility INFBASE2454848
Endometriosis INFBASE2454848

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
2454848 Endometrio
sis


Female infertility alpha 2M
Show abstract