rs76879328
From SNPedia
| Cystic Fibrosis related |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | cystic fibrosis carrier |
| Make rs76879328(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 7 |
| Position | 117540305 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs76879328 |
| dbSNP (classic) | rs76879328 |
| ClinGen | rs76879328 |
| ebi | rs76879328 |
| HLI | rs76879328 |
| Exac | rs76879328 |
| Gnomad | rs76879328 |
| Varsome | rs76879328 |
| LitVar | rs76879328 |
| Map | rs76879328 |
| PheGenI | rs76879328 |
| Biobank | rs76879328 |
| 1000 genomes | rs76879328 |
| hgdp | rs76879328 |
| ensembl | rs76879328 |
| geneview | rs76879328 |
| scholar | rs76879328 |
| rs76879328 | |
| pharmgkb | rs76879328 |
| gwascentral | rs76879328 |
| openSNP | rs76879328 |
| 23andMe | rs76879328 |
| SNPshot | rs76879328 |
| SNPdbe | rs76879328 |
| MSV3d | rs76879328 |
| GWAS Ctlg | rs76879328 |
| Max Magnitude | 3 |
Cystic fibrosis perhaps; listed as pathogenic in ClinVar but not listed at all in CFTR2
named i5006087, i5011113 and i5053861 by 23andMe
FTDNA & MyHeritage name: VG07S52452
| ClinVar | |
|---|---|
| Risk | rs76879328(T;T) |
| Alt | rs76879328(T;T) |
| Reference | Rs76879328(G;G) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 1 |
| HGVS | NC_000007.13:g.117180359C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007589.2, |
