MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 985; N. variants: 137
Disease: Thrombophilia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1314498183
rs1314498183
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0398623
Disease:
Thrombophilia 		0.010 GeneticVariation BEFREE Factor V Leiden G1691A, prothrombin G20210A, MTHFR C677T, and Factor XII C46T mutations are associated with the risk of developing thrombophilia. 22521752 2012