rs121908779
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;CTCAAAACT) | 3 | cystic fibrosis carrier |
| (CTCAAAACT;CTCAAAACT) | 0 | common in clinvar |
| Make rs121908779(A;A) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 7 |
| Position | 117592090 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908779 |
| dbSNP (classic) | rs121908779 |
| ClinGen | rs121908779 |
| ebi | rs121908779 |
| HLI | rs121908779 |
| Exac | rs121908779 |
| Gnomad | rs121908779 |
| Varsome | rs121908779 |
| LitVar | rs121908779 |
| Map | rs121908779 |
| PheGenI | rs121908779 |
| Biobank | rs121908779 |
| 1000 genomes | rs121908779 |
| hgdp | rs121908779 |
| ensembl | rs121908779 |
| geneview | rs121908779 |
| scholar | rs121908779 |
| rs121908779 | |
| pharmgkb | rs121908779 |
| gwascentral | rs121908779 |
| openSNP | rs121908779 |
| 23andMe | rs121908779 |
| SNPshot | rs121908779 |
| SNPdbe | rs121908779 |
| MSV3d | rs121908779 |
| GWAS Ctlg | rs121908779 |
| Max Magnitude | 3 |
rs121908779, probably best known as 2055del9>A, is a SNP in the cystic fibrosis CFTR gene.
It has been reported as pathogenic in ClinVar by one submitter (Invitae), however that company's own database does not list it, and 23andMe does not test for it even under one of their 'secret' i-names. If anyone has information definitively indicating something about the pathogenicity of the rare allele of this SNP, which deletes 9 nucleotides and replaces them with a single 'A', please let us know.
| ClinVar | |
|---|---|
| Risk | rs121908779(A;A) |
| Alt | rs121908779(A;A) |
| Reference | Rs121908779(CTCAAAACT;CTCAAAACT) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117232144_117232152delCTCAAAACTinsA |
| CLNSRC | CFTR2 Cystic Fibrosis Mutation Database |
| CLNACC | RCV000046508.3, |
