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: 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: 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: rs1057519745
rs1057519745 		1.000 0.040 11 32396363 frameshift variant -/ACCGTACA ins
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 6 2014 2014
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: 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: rs121907909
rs121907909 		0.851 0.280 11 32392032 stop gained G/A snv 7.0E-06
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 4 1997 2013
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: 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: 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: rs587776576
rs587776576 		0.790 0.280 11 32391967 splice region variant C/T snv
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 4 1992 2013
dbSNP: rs1423753702
rs1423753702 		0.807 0.280 11 32396401 stop gained G/A snv 1.4E-05
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 1 1997 1997
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: 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: 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: rs1554939839
rs1554939839 		0.851 0.280 11 32396372 frameshift variant A/- delins
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 1 2004 2004
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: 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: rs3809060
rs3809060 		11 32437261 intron variant G/T snv 0.49
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs3809060
rs3809060 		11 32437261 intron variant G/T snv 0.49
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2015 2015
dbSNP: rs4986811
rs4986811 		11 32429547 intron variant T/G snv 0.31
CUI: C3897558
Disease: Soluble Interleukin 6 Receptor Measurement
Soluble Interleukin 6 Receptor Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs5030179
rs5030179 		11 32426709 intron variant T/C snv 0.51
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs5030317
rs5030317 		11 32388791 3 prime UTR variant C/G snv 0.45
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs587776576
rs587776576 		0.790 0.280 11 32391967 splice region variant C/T snv
CUI: C3151568
Disease: NEPHROTIC SYNDROME, TYPE 4
NEPHROTIC SYNDROME, TYPE 4 		0.700 1.000 1 1992 1992