rs79031340
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | cystic fibrosis carrier |
| Make rs79031340(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 7 |
| Position | 117540218 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs79031340 |
| dbSNP (classic) | rs79031340 |
| ClinGen | rs79031340 |
| ebi | rs79031340 |
| HLI | rs79031340 |
| Exac | rs79031340 |
| Gnomad | rs79031340 |
| Varsome | rs79031340 |
| LitVar | rs79031340 |
| Map | rs79031340 |
| PheGenI | rs79031340 |
| Biobank | rs79031340 |
| 1000 genomes | rs79031340 |
| hgdp | rs79031340 |
| ensembl | rs79031340 |
| geneview | rs79031340 |
| scholar | rs79031340 |
| rs79031340 | |
| pharmgkb | rs79031340 |
| gwascentral | rs79031340 |
| openSNP | rs79031340 |
| 23andMe | rs79031340 |
| SNPshot | rs79031340 |
| SNPdbe | rs79031340 |
| MSV3d | rs79031340 |
| GWAS Ctlg | rs79031340 |
| Max Magnitude | 3 |
Cystic fibrosis; c.988G>T, Gly330Ter or G330X
named i5011073 and i5053826 by 23andMe
| ClinVar | |
|---|---|
| Risk | rs79031340(T;T) |
| Alt | rs79031340(T;T) |
| Reference | Rs79031340(G;G) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117180272G>T |
| CLNSRC | CFTR2 |
| CLNACC | RCV000056402.3, |
[PMID 11388756] Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.
[PMID 15371902
] Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
[PMID 15371903] CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.
