SRY, sex determining region Y, 6736

N. diseases: 315; N. variants: 27
Disease: 46, XY female ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894974
rs104894974
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C0432470
Disease:
46, XY female 		0.010 GeneticVariation BEFREE In addition, we report the occurrence of the p.G95R mutation in a 46,XY female with complete gonadal dysgenesis. 21344134 2011