rs121908792
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | cystic fibrosis carrier |
| (G;G) | 0 | common in clinvar |
| Make rs121908792(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117530898 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908792 |
| dbSNP (classic) | rs121908792 |
| ClinGen | rs121908792 |
| ebi | rs121908792 |
| HLI | rs121908792 |
| Exac | rs121908792 |
| Gnomad | rs121908792 |
| Varsome | rs121908792 |
| LitVar | rs121908792 |
| Map | rs121908792 |
| PheGenI | rs121908792 |
| Biobank | rs121908792 |
| 1000 genomes | rs121908792 |
| hgdp | rs121908792 |
| ensembl | rs121908792 |
| geneview | rs121908792 |
| scholar | rs121908792 |
| rs121908792 | |
| pharmgkb | rs121908792 |
| gwascentral | rs121908792 |
| openSNP | rs121908792 |
| 23andMe | rs121908792 |
| SNPshot | rs121908792 |
| SNPdbe | rs121908792 |
| MSV3d | rs121908792 |
| GWAS Ctlg | rs121908792 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs121908792(A;A) rs121908792(C;C) rs121908792(T;T) |
| Alt | rs121908792(A;A) rs121908792(C;C) rs121908792(T;T) |
| Reference | Rs121908792(G;G) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis not provided Hereditary pancreatitis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis not provided Hereditary pancreatitis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117170952G>A; NC_000007.13:g.117170952G>C; NC_000007.13:g.117170952G>T |
| CLNSRC | CFTR2 Cystic Fibrosis Mutation Database |
| CLNACC | RCV000056370.4, RCV000224434.1, RCV000279013.1, RCV000046673.2, RCV000046674.2, |
Cystic fibrosis; c.274-1G>A
named i5010784 and i5010785 by 23andMe
[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
