SERPINC1, serpin family C member 1, 462

N. diseases: 184; N. variants: 46
Disease: Deep Vein Thrombosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909567
rs121909567
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0149871
Disease:
Deep Vein Thrombosis 		A 0.700 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs1487411568
rs1487411568
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0149871
Disease:
Deep Vein Thrombosis 		A 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs3138521
rs3138521
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0149871
Disease:
Deep Vein Thrombosis 		0.010 GeneticVariation BEFREE We have identified 2 novel polymorphisms, g.25G>A and g.-1A>T, and 2 known g.67G>A and rs3138521 5' UTR polymorphisms in SERPINC1 regulatory region in Indian patients with DVT for the first time. 27279637 2017
dbSNP: rs2227589
rs2227589
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0149871
Disease:
Deep Vein Thrombosis 		0.010 GeneticVariation BEFREE The OR for DVT per risk allele was 1.24 (95% confidence interval [95%CI], 1.11-1.37) for rs13146272, 1.29 (95% CI, 1.10-1.49) for rs2227589, and 1.15 (95% CI, 1.01-1.30) for rs1613662. 18349091 2008