AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
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: rs1332619445
rs1332619445
1.000 0.160 X 67717542 missense variant G/C snv
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs137852562
rs137852562
0.925 0.160 X 67721837 missense variant C/T snv
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs137852591
rs137852591
0.851 0.200 X 67721909 missense variant C/G snv 1.4E-03 1.4E-03
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1410383824
rs1410383824
0.925 0.160 X 67546470 stop gained G/A;T snv
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs886041132
rs886041132
0.925 0.160 X 67722943 missense variant C/T snv
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs9332971
rs9332971
0.851 0.200 X 67722944 missense variant G/A;T snv
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2004 2004