AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
Disease: Hypospadias 1, X-Linked ×
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: rs137852564
rs137852564 		0.827 0.240 X 67722976 missense variant G/A;T snv
CUI: C2678098
Disease: Hypospadias 1, X-Linked
Hypospadias 1, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs137852574
rs137852574 		0.925 0.160 X 67723688 missense variant T/G snv
CUI: C2678098
Disease: Hypospadias 1, X-Linked
Hypospadias 1, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs137852588
rs137852588 		0.925 0.160 X 67643284 missense variant C/T snv
CUI: C2678098
Disease: Hypospadias 1, X-Linked
Hypospadias 1, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0