MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 985; N. variants: 137
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs377443637
rs377443637
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856058
Disease:
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		A 0.700 CausalMutation CLINVAR Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency. 9781030 1998