SRY, sex determining region Y, 6736

N. diseases: 315; N. variants: 27
Disease: Turner Syndrome ×
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: rs104894966
rs104894966 		0.882 0.200 Y 2787267 missense variant C/T snv
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 1993 1993
dbSNP: rs104894971
rs104894971 		0.882 0.200 Y 2787551 missense variant C/T snv 4.4E-05
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 1998 1998
dbSNP: rs104894972
rs104894972 		0.807 0.240 Y 2787320 missense variant C/T snv
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2000 2000