Search Result
Gene id | 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene Summary |
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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 |
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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] |
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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 |
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Protein Summary |
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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 |
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Other Databases | GeneCards: A2M;  Malacards: A2M | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene ontology |
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KEGG pathways
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hsa04610 Complement and coagulation cascades | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diseases
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PubMed references |
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