rs2070074, GALT

N. diseases: 12
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Agenesis of vagina
CUI: C1261251
Disease: Agenesis of vagina
0.010 GeneticVariation BEFREE Vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome) associated with the N314D mutation of galactose-1-phosphate uridyl transferase (GALT). 9238673 1996