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: rs3816183
rs3816183
0.925 0.120 2 42788579 missense variant T/C snv 0.80 0.80
CUI: C0848558
Disease: Hypospadias
Hypospadias
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 2 2014 2019