rs79660178
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 3 | cystic fibrosis carrier |
| (T;T) | 0 | common in clinvar |
| Make rs79660178(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117530991 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs79660178 |
| dbSNP (classic) | rs79660178 |
| ClinGen | rs79660178 |
| ebi | rs79660178 |
| HLI | rs79660178 |
| Exac | rs79660178 |
| Gnomad | rs79660178 |
| Varsome | rs79660178 |
| LitVar | rs79660178 |
| Map | rs79660178 |
| PheGenI | rs79660178 |
| Biobank | rs79660178 |
| 1000 genomes | rs79660178 |
| hgdp | rs79660178 |
| ensembl | rs79660178 |
| geneview | rs79660178 |
| scholar | rs79660178 |
| rs79660178 | |
| pharmgkb | rs79660178 |
| gwascentral | rs79660178 |
| openSNP | rs79660178 |
| 23andMe | rs79660178 |
| SNPshot | rs79660178 |
| SNPdbe | rs79660178 |
| MSV3d | rs79660178 |
| GWAS Ctlg | rs79660178 |
| Max Magnitude | 3 |
Cystic fibrosis; c.366T>A, Tyr122Ter or Y122X
named i5010848 by 23andMe
| ClinVar | |
|---|---|
| Risk | rs79660178(A;A) |
| Alt | rs79660178(A;A) |
| Reference | Rs79660178(T;T) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117171045T>A |
| CLNSRC | CFTR2 |
| CLNACC | RCV000056385.3, |
[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
