MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 985; N. variants: 137
Disease: Hyperhomocysteinemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801131
rs1801131
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia 		0.020 GeneticVariation BEFREE Genotyping of hyperhomocysteinemia associated MTHFR polymorphisms C677T (rs1801133) and A1298C (rs1801131) was done by PCR-restriction fragment length polymorphism. 29600437 2018
dbSNP: rs1801131
rs1801131
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia 		0.020 GeneticVariation BEFREE The MTHFR rs1801133 CT genotype, TT genotype and T allele; the MTHFR rs1801131 AC genotype, CC genotype and C allele; the MTRR rs1801394 GA genotype, GG genotype and G allele; and the MTRR rs162036 AG genotype and AG+GG genotypes were associated with the efficacy of folic acid therapy for HHcy (P<0·05). 29644956 2018