rs1217691063, MTHFR

N. diseases: 614
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Anencephaly
CUI: C0002902
Disease: Anencephaly
0.040 GeneticVariation BEFREE The interaction of COMT rs737865 and MTHFR C677T was associated with an increased risk of NTDs, especially anencephaly, in a Chinese population with a high prevalence of NTDs. 24990354 2015
Anencephaly
CUI: C0002902
Disease: Anencephaly
0.040 GeneticVariation BEFREE Effect on risk of anencephaly of gene-nutrient interactions between methylenetetrahydrofolate reductase C677T polymorphism and maternal folate, vitamin B12 and homocysteine profile. 22230335 2012
Anencephaly
CUI: C0002902
Disease: Anencephaly
0.040 GeneticVariation BEFREE We conducted a case-control study specifically for anencephaly, based on the Mexican Epidemiological Surveillance System of Neural Tube Defects to evaluate its association with maternal MTHFR 677C > T and 1298A > C polymorphisms, in three states with high frequencies of NTDs: Puebla, Estado de México and Guerrero. 17439956 2007
Anencephaly
CUI: C0002902
Disease: Anencephaly
0.040 GeneticVariation BEFREE These preliminary data suggest that the 677C-->T polymorphism of the MTHFR gene is a risk factor for spina bifida and anencephaly that may provide a partial biologic explanation for why folic acid prevents these types of NTD. 8826441 1996