rs76713772
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Cystic Fibrosis carrier |
| (C;C) | 0 | common in complete genomics |
| (G;G) | 0 | common in clinvar |
| Make rs76713772(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117587738 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs76713772 |
| dbSNP (classic) | rs76713772 |
| ClinGen | rs76713772 |
| ebi | rs76713772 |
| HLI | rs76713772 |
| Exac | rs76713772 |
| Gnomad | rs76713772 |
| Varsome | rs76713772 |
| LitVar | rs76713772 |
| Map | rs76713772 |
| PheGenI | rs76713772 |
| Biobank | rs76713772 |
| 1000 genomes | rs76713772 |
| hgdp | rs76713772 |
| ensembl | rs76713772 |
| geneview | rs76713772 |
| scholar | rs76713772 |
| rs76713772 | |
| pharmgkb | rs76713772 |
| gwascentral | rs76713772 |
| openSNP | rs76713772 |
| 23andMe | rs76713772 |
| SNPshot | rs76713772 |
| SNPdbe | rs76713772 |
| MSV3d | rs76713772 |
| GWAS Ctlg | rs76713772 |
| GMAF | 0.0004591 |
| Max Magnitude | 3 |
rs76713772, also known as 1717-1G->A or 1585-1G>A, is a SNP in the CFTR gene considered pathogenic for cystic fibrosis.
In 23andMe, rs76713772 goes by several names: i4000317, i5011301 and i6056292.
FTDNA & MyHeritage name: VG07S45090
| ClinVar | |
|---|---|
| Risk | rs76713772(A;A) |
| Alt | rs76713772(A;A) |
| Reference | Rs76713772(G;G) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis not provided |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis not provided |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117227792G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007532.8, RCV000224919.2, |
[PMID 15948195] Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.
