rs77010898
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Cystic fibrosis allele (carrier) |
| (G;G) | 0 | common in clinvar |
| Make rs77010898(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117642566 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs77010898 |
| dbSNP (classic) | rs77010898 |
| ClinGen | rs77010898 |
| ebi | rs77010898 |
| HLI | rs77010898 |
| Exac | rs77010898 |
| Gnomad | rs77010898 |
| Varsome | rs77010898 |
| LitVar | rs77010898 |
| Map | rs77010898 |
| PheGenI | rs77010898 |
| Biobank | rs77010898 |
| 1000 genomes | rs77010898 |
| hgdp | rs77010898 |
| ensembl | rs77010898 |
| geneview | rs77010898 |
| scholar | rs77010898 |
| rs77010898 | |
| pharmgkb | rs77010898 |
| gwascentral | rs77010898 |
| openSNP | rs77010898 |
| 23andMe | rs77010898 |
| SNPshot | rs77010898 |
| SNPdbe | rs77010898 |
| MSV3d | rs77010898 |
| GWAS Ctlg | rs77010898 |
| Max Magnitude | 3 |
rs77010898, also known as Trp1282X, W1282X, W1282* and 3846G>A, is a SNP in the CFTR gene considered pathogenic for cystic fibrosis.
The W1282X mutation is reported to be the most common cystic fibrosis mutation in Ashkenazi Jews, representing 50% of more all CFTR mutations reported (in that population).[PMID 10464623]
An article about a nonprofit, Emily's Entourage, focusing on developing treatments for patients with CFTR nonsense mutations such as W1282X, is available here.
In 23andMe, rs77010898 may be referred to by at least 3 other names: i4000309, i5012037, and i6056299.
FTDNA & MyHeritage name: VG07S29451
| ClinVar | |
|---|---|
| Risk | rs77010898(A;A) rs77010898(C;C) |
| Alt | rs77010898(A;A) rs77010898(C;C) |
| Reference | Rs77010898(G;G) |
| Significance | Drug-response |
| Disease | Cystic fibrosis not provided Hereditary pancreatitis ataluren response - Efficacy |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis not provided Hereditary pancreatitis ataluren response - Efficacy |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117282620G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007549.10, RCV000271658.2, RCV000324041.1, RCV000417171.1, |
