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: rs121907900
rs121907900
0.763 0.200 11 32392020 missense variant G/A snv
CUI: C1837026
Disease: MEACHAM SYNDROME (disorder)
MEACHAM SYNDROME (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121907906
rs121907906
0.776 0.320 11 32392717 stop gained G/A snv
CUI: C1837026
Disease: MEACHAM SYNDROME (disorder)
MEACHAM SYNDROME (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121907910
rs121907910
1.000 0.160 11 32392705 missense variant G/A snv
CUI: C1837026
Disease: MEACHAM SYNDROME (disorder)
MEACHAM SYNDROME (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0