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: rs2066479
rs2066479
0.790 0.160 9 96235528 missense variant C/A;G;T snv 7.2E-02
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs28939085
rs28939085
0.882 0.240 9 96240885 missense variant G/A snv 2.0E-05 2.1E-05
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2007 2007