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rs28941778

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 9 Denys-Drash syndrome
(G;G) 0 common in clinvar


Make rs28941778(A;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position32392014
GeneWT1
is asnp
is mentioned by
dbSNPrs28941778
ebirs28941778
HLIrs28941778
Exacrs28941778
Varsomers28941778
Maprs28941778
PheGenIrs28941778
hapmaprs28941778
1000 genomesrs28941778
hgdprs28941778
ensemblrs28941778
gopubmedrs28941778
geneviewrs28941778
scholarrs28941778
googlers28941778
pharmgkbrs28941778
gwascentralrs28941778
openSNPrs28941778
23andMers28941778
23andMe allrs28941778
SNP Nexus

SNPshotrs28941778
SNPdbers28941778
MSV3drs28941778
GWAS Ctlgrs28941778
Max Magnitude9

rs28941778, also known as Asp396Asn or D396N, is a SNP in the WT1 gene on chromosome 11.

This SNP is considered pathogenic (causal) for Denys-Drash syndrome, and may also be associated with nephrotic syndrome, type IV.[PMID 1655284]

See also OMIM 607102.0006

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
Variant0006
Relatedalso
OMIM607102
DescMESANGIAL SCLEROSIS, ISOLATED DIFFUSE
Variant0023
Relatedalso
Neighborrs28941779
Distance12


ClinVar
Risk rs28941778(A;A)
Alt rs28941778(A;A)
Reference Rs28941778(G;G)
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.32413560C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003661.3, RCV000003662.3,