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: rs587776576
rs587776576
0.790 0.280 11 32391967 splice region variant C/T snv
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 7 1992 2017
dbSNP: rs121907909
rs121907909
0.851 0.280 11 32392032 stop gained G/A snv 7.0E-06
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 4 1997 2013
dbSNP: rs1423753702
rs1423753702
0.807 0.280 11 32396401 stop gained G/A snv 1.4E-05
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 1997 1997
dbSNP: rs1554939839
rs1554939839
0.851 0.280 11 32396372 frameshift variant A/- delins
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2004 2004
dbSNP: rs1060501253
rs1060501253
0.882 0.200 11 32428031 frameshift variant G/- delins
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121907900
rs121907900
0.763 0.200 11 32392020 missense variant G/A snv
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
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: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1554945232
rs1554945232
0.851 0.280 11 32428598 frameshift variant -/C delins
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1554946500
rs1554946500
0.851 0.280 11 32434883 stop gained G/A snv
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1554946600
rs1554946600
0.851 0.280 11 32435027 frameshift variant C/- delins
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1565000973
rs1565000973
0.851 0.280 11 32434708 frameshift variant C/- del
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs267602852
rs267602852
0.827 0.160 11 32417631 missense variant G/A snv
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs28941779
rs28941779
1.000 0.160 11 32392026 missense variant A/G;T snv
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs587776575
rs587776575
1.000 0.160 11 32391966 splice region variant A/G;T snv
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs587776577
rs587776577
0.925 0.160 11 32391968 splice region variant G/A snv
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1049509674
rs1049509674
0.925 0.200 11 32435341 missense variant T/C snv
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1188182005
rs1188182005
0.925 0.200 11 32430535 missense variant T/C snv 4.2E-06 7.1E-06
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2002 2002