WT1, WT1 transcription factor, 7490

N. diseases: 446; N. variants: 61
Disease: Denys-Drash Syndrome ×
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: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.710 1.000 1 2017 2017
dbSNP: rs587776576
rs587776576 		0.790 0.280 11 32391967 splice region variant C/T snv
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 5 1992 2013
dbSNP: rs121907909
rs121907909 		0.851 0.280 11 32392032 stop gained G/A snv 7.0E-06
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; 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: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; 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: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2004 2004
dbSNP: rs1564969626
rs1564969626 		1.000 0.200 11 32391998 missense variant T/G snv
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1060501253
rs1060501253 		0.882 0.200 11 32428031 frameshift variant G/- delins
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121907901
rs121907901 		1.000 0.200 11 32392704 missense variant C/T snv
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121907902
rs121907902 		1.000 0.200 11 32392013 missense variant T/C snv
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121907903
rs121907903 		1.000 0.200 11 32392019 missense variant C/G;T snv
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121907904
rs121907904 		1.000 0.200 11 32396313 missense variant C/T snv
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121907905
rs121907905 		1.000 0.200 11 32392723 missense variant A/C snv
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; 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: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121907907
rs121907907 		1.000 0.200 11 32392682 missense variant G/A;C snv 4.0E-06
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; 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: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; 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: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; 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: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; 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: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1565001383
rs1565001383 		0.925 0.200 11 32434889 stop gained C/A snv
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs28941778
rs28941778 		0.925 0.200 11 32392014 missense variant C/A;T snv
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs28942089
rs28942089 		0.925 0.200 11 32392672 missense variant G/A snv
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs772590420
rs772590420 		1.000 0.200 11 32396400 missense variant C/T snv 1.6E-05
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016