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: rs1423753702
rs1423753702
0.807 0.280 11 32396401 stop gained G/A snv 1.4E-05
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 2 1997 2009
dbSNP: rs121907909
rs121907909
0.851 0.280 11 32392032 stop gained G/A snv 7.0E-06
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 4 1997 2013
dbSNP: rs2234584
rs2234584
0.882 0.240 11 32428521 missense variant G/A;T snv 3.9E-04; 2.8E-05
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 4 2004 2017
dbSNP: rs1554939839
rs1554939839
0.851 0.280 11 32396372 frameshift variant A/- delins
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2004 2004
dbSNP: rs587776576
rs587776576
0.790 0.280 11 32391967 splice region variant C/T snv
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1060501253
rs1060501253
0.882 0.200 11 32428031 frameshift variant G/- delins
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1131690795
rs1131690795
1.000 0.160 11 32434769 frameshift variant C/- delins
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121907900
rs121907900
0.763 0.200 11 32392020 missense variant G/A snv
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121907906
rs121907906
0.776 0.320 11 32392717 stop gained G/A snv
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121907911
rs121907911
1.000 0.160 11 32434815 stop gained G/T snv
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1554945033
rs1554945033
1.000 0.160 11 32427961 inframe deletion TAG/- delins
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1554945232
rs1554945232
0.851 0.280 11 32428598 frameshift variant -/C delins
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1554946500
rs1554946500
0.851 0.280 11 32434883 stop gained G/A snv
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1554946600
rs1554946600
0.851 0.280 11 32435027 frameshift variant C/- delins
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1565000973
rs1565000973
0.851 0.280 11 32434708 frameshift variant C/- del
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1565001383
rs1565001383
0.925 0.200 11 32434889 stop gained C/A snv
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs587776573
rs587776573
1.000 0.160 11 32417633 frameshift variant TTTGGTATAAATTGTCA/- delins
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs587776574
rs587776574
1.000 0.160 11 32399967 frameshift variant C/- delins
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs16754
rs16754
0.732 0.240 11 32396399 synonymous variant T/C snv 0.24; 4.0E-06 0.17
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.100 1.000 11 2011 2018
dbSNP: rs1037084691
rs1037084691
0.827 0.160 11 32392031 missense variant C/G;T snv
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1049509674
rs1049509674
0.925 0.200 11 32435341 missense variant T/C snv
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2002 2002
dbSNP: rs10767935
rs10767935
1.000 0.160 11 32405158 intron variant C/T snv 0.27
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1188182005
rs1188182005
0.925 0.200 11 32430535 missense variant T/C snv 4.2E-06 7.1E-06
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1799937
rs1799937
0.882 0.160 11 32389228 intron variant A/G snv 0.35 0.35
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2005 2005
dbSNP: rs2234590
rs2234590
1.000 0.160 11 32399987 synonymous variant T/C snv 1.2E-02 4.6E-02
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2005 2005