rs2070074, GALT

N. diseases: 12
Disease: Rokitansky Kuster Hauser syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Rokitansky Kuster Hauser syndrome
CUI: C1698581
Disease: Rokitansky Kuster Hauser syndrome
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