rs28942089
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 9 | Denys-Drash syndrome |
| Make rs28942089(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 32392672 |
| Gene | WT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28942089 |
| dbSNP (classic) | rs28942089 |
| ClinGen | rs28942089 |
| ebi | rs28942089 |
| HLI | rs28942089 |
| Exac | rs28942089 |
| Gnomad | rs28942089 |
| Varsome | rs28942089 |
| LitVar | rs28942089 |
| Map | rs28942089 |
| PheGenI | rs28942089 |
| Biobank | rs28942089 |
| 1000 genomes | rs28942089 |
| hgdp | rs28942089 |
| ensembl | rs28942089 |
| geneview | rs28942089 |
| scholar | rs28942089 |
| rs28942089 | |
| pharmgkb | rs28942089 |
| gwascentral | rs28942089 |
| openSNP | rs28942089 |
| 23andMe | rs28942089 |
| SNPshot | rs28942089 |
| SNPdbe | rs28942089 |
| MSV3d | rs28942089 |
| GWAS Ctlg | rs28942089 |
| Max Magnitude | 9 |
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 23788249
]
| 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, |
