rs121908805
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 3 | carrier of a cystic fibrosis allele |
| (C;C) | 0 | common in clinvar |
| (C;G) | 3 | carrier of a cystic fibrosis allele |
| Make rs121908805(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117559468 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908805 |
| dbSNP (classic) | rs121908805 |
| ClinGen | rs121908805 |
| ebi | rs121908805 |
| HLI | rs121908805 |
| Exac | rs121908805 |
| Gnomad | rs121908805 |
| Varsome | rs121908805 |
| LitVar | rs121908805 |
| Map | rs121908805 |
| PheGenI | rs121908805 |
| Biobank | rs121908805 |
| 1000 genomes | rs121908805 |
| hgdp | rs121908805 |
| ensembl | rs121908805 |
| geneview | rs121908805 |
| scholar | rs121908805 |
| rs121908805 | |
| pharmgkb | rs121908805 |
| gwascentral | rs121908805 |
| openSNP | rs121908805 |
| 23andMe | rs121908805 |
| SNPshot | rs121908805 |
| SNPdbe | rs121908805 |
| MSV3d | rs121908805 |
| GWAS Ctlg | rs121908805 |
| Max Magnitude | 3 |
Cystic fibrosis; c.1397C>A or c.1397C>G, p.Ser466Ter
named i5011223 or i5011224 by 23andMe
| ClinVar | |
|---|---|
| Risk | rs121908805(A;A) rs121908805(G;G) rs121908805(T;T) |
| Alt | rs121908805(A;A) rs121908805(G;G) rs121908805(T;T) |
| Reference | Rs121908805(C;C) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117199522C>A; NC_000007.13:g.117199522C>G; NC_000007.13:g.117199522C>T |
| CLNSRC | CFTR2 |
| CLNACC | RCV000056348.3, RCV000029475.4, RCV000046294.2, |
[PMID 7509683] Three novel mutations (I506S, S466X, 1651A-->T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of southern German descent.
