WT1, WT1 transcription factor, 7490

N. diseases: 446; N. variants: 61
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: rs1037084691
rs1037084691
0.827 0.160 11 32392031 missense variant C/G;T snv
CUI: C0848558
Disease: Hypospadias
Hypospadias
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121907900
rs121907900
0.763 0.200 11 32392020 missense variant G/A snv
CUI: C0848558
Disease: Hypospadias
Hypospadias
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs554416372
rs554416372
0.827 0.160 11 32396397 missense variant C/A;G;T snv 2.0E-05; 8.0E-06; 9.6E-05
CUI: C0848558
Disease: Hypospadias
Hypospadias
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018