rs104894972, SRY

N. diseases: 6
Disease: 46, XY female ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
46, XY female
CUI: C0432470
Disease: 46, XY female
0.010 GeneticVariation BEFREE Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor. 10852465 2000