rs397507444, MTHFR

N. diseases: 306
Disease: Ataxia Telangiectasia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
0.010 GeneticVariation BEFREE High serum concentrations of homocysteine, cholesterol and uric acid, and low concentrations of estradiol and vitamin B(12), as well as the MTHFR 1298A-->C mutation are simultaneously associated to ATD. 19232336 2009