Have questions? Visit https://www.reddit.com/r/SNPedia

rs28942089

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 9 Denys-Drash syndrome
Make rs28942089(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position32392672
GeneWT1
is asnp
is mentioned by
dbSNPrs28942089
ClinGenrs28942089
ebirs28942089
HLIrs28942089
Exacrs28942089
Varsomers28942089
Maprs28942089
PheGenIrs28942089
hapmaprs28942089
1000 genomesrs28942089
hgdprs28942089
ensemblrs28942089
gopubmedrs28942089
geneviewrs28942089
scholarrs28942089
googlers28942089
pharmgkbrs28942089
gwascentralrs28942089
openSNPrs28942089
23andMers28942089
23andMe allrs28942089
SNP Nexus

SNPshotrs28942089
SNPdbers28942089
MSV3drs28942089
GWAS Ctlgrs28942089
Max Magnitude9

rs28942089, also known as His377Tyr or H377Y, is a SNP in the WT1 gene on chromosome 11.

The mutant allele for this SNP is considered causal for Denys-Drash syndrome, based on several reports.[PMID 1327525]

See also OMIM 607102.0012

This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249OA-icon.png]

OMIM607102
DescDENYS-DRASH SYNDROME
Variant0012
Relatedalso
OMIM607102
DescMESANGIAL SCLEROSIS, ISOLATED DIFFUSE
Variant0021
Relatedalso
Neighborrs28941777
Distance619
ClinVar
Risk rs28942089(T;T)
Alt rs28942089(T;T)
Reference Rs28942089(C;C)
Significance Pathogenic
Disease Drash syndrome Diffuse mesangial sclerosis
Variation info
Gene WT1
CLNDBN Drash syndrome Diffuse mesangial sclerosis
Reversed 1
HGVS NC_000011.9:g.32414218G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003667.2, RCV000003668.2,