rs1801131, MTHFR

N. diseases: 93
Disease: Congenital omphalocele ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital omphalocele
CUI: C0795690
Disease: Congenital omphalocele
0.010 GeneticVariation BEFREE In the total study population, variants in the transcobalamin receptor gene (TCblR), rs2232775 (p.Q8R), and the MTHFR gene, rs1801131 (c.1298A>C), were significantly associated with omphalocele. 22116453 2012