rs397507444, MTHFR

N. diseases: 306
Disease: Spina Bifida ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Spina Bifida
CUI: C0080178
Disease: Spina Bifida
0.020 GeneticVariation BEFREE Methylenetetrahydrofolate reductase (MTHFR): incidence of mutations C677T and A1298C in Brazilian population and its correlation with plasma homocysteine levels in spina bifida. 12707953 2003
Spina Bifida
CUI: C0080178
Disease: Spina Bifida
0.020 GeneticVariation BEFREE Homozygosity for the A1298C mutation was seen at a higher rate only in Hispanic mothers of both upper and lower level SB cases when compared to controls, but these results were not statistically significant. 11074490 2000