rs113993961
From SNPedia
| Werner Syndrome |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 6 | Werner syndrome; homozygote for transversion mutation |
| (C;G) | 2 | carrier for Werner syndrome |
| (G;G) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 31141680 |
| Gene | WRN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113993961 |
| dbSNP (classic) | rs113993961 |
| ClinGen | rs113993961 |
| ebi | rs113993961 |
| HLI | rs113993961 |
| Exac | rs113993961 |
| Gnomad | rs113993961 |
| Varsome | rs113993961 |
| LitVar | rs113993961 |
| Map | rs113993961 |
| PheGenI | rs113993961 |
| Biobank | rs113993961 |
| 1000 genomes | rs113993961 |
| hgdp | rs113993961 |
| ensembl | rs113993961 |
| geneview | rs113993961 |
| scholar | rs113993961 |
| rs113993961 | |
| pharmgkb | rs113993961 |
| gwascentral | rs113993961 |
| openSNP | rs113993961 |
| 23andMe | rs113993961 |
| SNPshot | rs113993961 |
| SNPdbe | rs113993961 |
| MSV3d | rs113993961 |
| GWAS Ctlg | rs113993961 |
| GMAF | 0.0004591 |
| Max Magnitude | 6 |
rs113993961 is a rare transversion in the WRN gene that results in a frameshift of codons 1078 to 1092 due to a change in a splice donor sequence, leading to the recessive disorder known as Werner Syndrome. See OMIM 604611.0004.
| ClinVar | |
|---|---|
| Risk | Rs113993961(C;C) |
| Alt | Rs113993961(C;C) |
| Reference | Rs113993961(G;G) |
| Significance | Pathogenic |
| Disease | Werner syndrome not provided |
| Variation | info |
| Gene | WRN |
| CLNDBN | Werner syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000008.10:g.30999196G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005780.4, RCV000058932.1, |
[PMID 10347997] Prevalence of Werner's syndrome heterozygotes in Japan.
[PMID 16673358
] The spectrum of WRN mutations in Werner syndrome patients.
