rs17847577
From SNPedia
| Werner's Syndrome |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | 5 | Unaffected carrier for Werner's Syndrome |
| (T;T) | 7.5 | Werner's Syndrome |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 31081132 |
| Gene | WRN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17847577 |
| dbSNP (classic) | rs17847577 |
| ClinGen | rs17847577 |
| ebi | rs17847577 |
| HLI | rs17847577 |
| Exac | rs17847577 |
| Gnomad | rs17847577 |
| Varsome | rs17847577 |
| LitVar | rs17847577 |
| Map | rs17847577 |
| PheGenI | rs17847577 |
| Biobank | rs17847577 |
| 1000 genomes | rs17847577 |
| hgdp | rs17847577 |
| ensembl | rs17847577 |
| geneview | rs17847577 |
| scholar | rs17847577 |
| rs17847577 | |
| pharmgkb | rs17847577 |
| gwascentral | rs17847577 |
| openSNP | rs17847577 |
| 23andMe | rs17847577 |
| SNPshot | rs17847577 |
| SNPdbe | rs17847577 |
| MSV3d | rs17847577 |
| GWAS Ctlg | rs17847577 |
| Max Magnitude | 7.5 |
rs17847577, also known as R368X, Arg368Ter, Arg369Ter, c.1105C>T or 1336C>T) represents the most common WRN mutation seen in Caucasians as well as all other non-Japanese populations, perhaps representing ~20% of all Werner Syndrome cases.
| ClinVar | |
|---|---|
| Risk | Rs17847577(T;T) |
| Alt | Rs17847577(T;T) |
| Reference | Rs17847577(C;C) |
| Significance | Pathogenic |
| Disease | Werner syndrome |
| Variation | info |
| Gene | WRN |
| CLNDBN | Werner syndrome |
| Reversed | 0 |
| HGVS | NC_000008.10:g.30938648C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005782.4, |
[PMID 16673358
] The spectrum of WRN mutations in Werner syndrome patients.
