rs797045162
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (;) | 0 | common in clinvar |
| (-;-) | 0 | common/normal |
| (-;C) | 3 | carrier of a cystic fibrosis allele |
| Make rs797045162(C;C) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 7 |
| Position | 117592220 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs797045162 |
| dbSNP (classic) | rs797045162 |
| ClinGen | rs797045162 |
| ebi | rs797045162 |
| HLI | rs797045162 |
| Exac | rs797045162 |
| Gnomad | rs797045162 |
| Varsome | rs797045162 |
| LitVar | rs797045162 |
| Map | rs797045162 |
| PheGenI | rs797045162 |
| Biobank | rs797045162 |
| 1000 genomes | rs797045162 |
| hgdp | rs797045162 |
| ensembl | rs797045162 |
| geneview | rs797045162 |
| scholar | rs797045162 |
| rs797045162 | |
| pharmgkb | rs797045162 |
| gwascentral | rs797045162 |
| openSNP | rs797045162 |
| 23andMe | rs797045162 |
| SNPshot | rs797045162 |
| SNPdbe | rs797045162 |
| MSV3d | rs797045162 |
| GWAS Ctlg | rs797045162 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs797045162(C;C) |
| Alt | rs797045162(C;C) |
| Reference | Rs797045162(-;-) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117232274dupC |
| CLNSRC | CFTR2 |
| CLNACC | RCV000191011.1, |
