rs76649725
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 3 | carrier of a cystic fibrosis allele |
| (C;C) | 0 | common in clinvar |
| Make rs76649725(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117642484 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs76649725 |
| dbSNP (classic) | rs76649725 |
| ClinGen | rs76649725 |
| ebi | rs76649725 |
| HLI | rs76649725 |
| Exac | rs76649725 |
| Gnomad | rs76649725 |
| Varsome | rs76649725 |
| LitVar | rs76649725 |
| Map | rs76649725 |
| PheGenI | rs76649725 |
| Biobank | rs76649725 |
| 1000 genomes | rs76649725 |
| hgdp | rs76649725 |
| ensembl | rs76649725 |
| geneview | rs76649725 |
| scholar | rs76649725 |
| rs76649725 | |
| pharmgkb | rs76649725 |
| gwascentral | rs76649725 |
| openSNP | rs76649725 |
| 23andMe | rs76649725 |
| SNPshot | rs76649725 |
| SNPdbe | rs76649725 |
| MSV3d | rs76649725 |
| GWAS Ctlg | rs76649725 |
| GMAF | 0.0004591 |
| Max Magnitude | 3 |
Cystic fibrosis; c.3764C>A, p.Ser1255Ter
| ClinVar | |
|---|---|
| Risk | rs76649725(A;A) rs76649725(T;T) |
| Alt | rs76649725(A;A) rs76649725(T;T) |
| Reference | Rs76649725(C;C) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117282538C>A; NC_000007.13:g.117282538C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007545.4, RCV000046976.2, |
