Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060501253
rs1060501253
WT1
C 0.700 CausalMutation CLINVAR

dbSNP: rs121907900
rs121907900
WT1
A 0.710 CausalMutation CLINVAR

dbSNP: rs121907900
rs121907900
WT1
0.710 GeneticVariation BEFREE WT1 gene mutations have been described in 46,XY patients with ambiguous genitalia or complete gonadal dysgenesis with or without Wilms' tumor, nephropathy, gonadoblastoma, and other defects, e.g., cryptorchidism or hypospadias. p.R462W is a hot spot mutation in exon 9 and is the most common mutation in patients with Denys-Drash syndrome. 29320783

2017
dbSNP: rs121907901
rs121907901
WT1
T 0.700 CausalMutation CLINVAR

dbSNP: rs121907902
rs121907902
WT1
C 0.700 CausalMutation CLINVAR

dbSNP: rs121907903
rs121907903
WT1
G 0.700 CausalMutation CLINVAR

dbSNP: rs121907904
rs121907904
WT1
T 0.700 CausalMutation CLINVAR

dbSNP: rs121907905
rs121907905
WT1
C 0.700 CausalMutation CLINVAR

dbSNP: rs121907906
rs121907906
WT1
A 0.700 CausalMutation CLINVAR

dbSNP: rs121907907
rs121907907
WT1
C 0.700 CausalMutation CLINVAR

dbSNP: rs121907909
rs121907909
WT1
A 0.700 CausalMutation CLINVAR Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome. 10571943

1999
dbSNP: rs121907909
rs121907909
WT1
A 0.700 CausalMutation CLINVAR Genetic screening in adolescents with steroid-resistant nephrotic syndrome. 23515051

2013
dbSNP: rs121907909
rs121907909
WT1
A 0.700 CausalMutation CLINVAR Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology. 9108089

1997
dbSNP: rs121907909
rs121907909
WT1
A 0.700 CausalMutation CLINVAR Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children. 21851196

2011
dbSNP: rs1414739809
rs1414739809
PKD1
0.010 GeneticVariation BEFREE Genetic analysis revealed a de novo heterozygous missense mutation c.1186G>A (p.Asp396Asn) in the WT1 gene, confirming the diagnosis of DDS. 24379226

2014
dbSNP: rs1423753702
rs1423753702
WT1
A 0.700 CausalMutation CLINVAR Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology. 9108089

1997
dbSNP: rs1554939839
rs1554939839
WT1
C 0.700 CausalMutation CLINVAR Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development. 15150775

2004
dbSNP: rs1554945232
rs1554945232
WT1
TC 0.700 CausalMutation CLINVAR

dbSNP: rs1554946500
rs1554946500
WT1 ; WT1-AS
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554946600
rs1554946600
WT1 ; WT1-AS
T 0.700 CausalMutation CLINVAR

dbSNP: rs1564969626
rs1564969626
WT1
G 0.700 GeneticVariation CLINVAR Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. 27241786

2016
dbSNP: rs1565000973
rs1565000973
WT1 ; WT1-AS
G 0.700 CausalMutation CLINVAR

dbSNP: rs1565001383
rs1565001383
WT1 ; WT1-AS
A 0.700 CausalMutation CLINVAR

dbSNP: rs28941778
rs28941778
WT1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs28941778
rs28941778
WT1
T 0.700 CausalMutation CLINVAR