SRY, sex determining region Y, 6736

N. diseases: 315; N. variants: 27
Disease: 46, XY female ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894972
rs104894972 		0.807 0.240 Y 2787320 missense variant C/T snv
CUI: C0432470
Disease: 46, XY female
46, XY female 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs104894974
rs104894974 		0.925 0.160 Y 2787321 missense variant C/G snv
CUI: C0432470
Disease: 46, XY female
46, XY female 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011