rs121908778
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;G) | 3 | cystic fibrosis carrier |
| (G;G) | 0 | common in clinvar |
| Make rs121908778(-;-) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 7 |
| Position | 117592078 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908778 |
| dbSNP (classic) | rs121908778 |
| ClinGen | rs121908778 |
| ebi | rs121908778 |
| HLI | rs121908778 |
| Exac | rs121908778 |
| Gnomad | rs121908778 |
| Varsome | rs121908778 |
| LitVar | rs121908778 |
| Map | rs121908778 |
| PheGenI | rs121908778 |
| Biobank | rs121908778 |
| 1000 genomes | rs121908778 |
| hgdp | rs121908778 |
| ensembl | rs121908778 |
| geneview | rs121908778 |
| scholar | rs121908778 |
| rs121908778 | |
| pharmgkb | rs121908778 |
| gwascentral | rs121908778 |
| openSNP | rs121908778 |
| 23andMe | rs121908778 |
| SNPshot | rs121908778 |
| SNPdbe | rs121908778 |
| MSV3d | rs121908778 |
| GWAS Ctlg | rs121908778 |
| Max Magnitude | 3 |
aka c.1911delG
| ClinVar | |
|---|---|
| Risk | rs121908778(-;-) rs121908778(C;C) |
| Alt | rs121908778(-;-) rs121908778(C;C) |
| Reference | Rs121908778(G;G) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117232132delG |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000029489.2, |
[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
[PMID 15371903] CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.
[PMID 1284534] Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.
[PMID 7525450] Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.
[PMID 9521595] Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I).
[PMID 12521276] Cystic fibrosis transmembrane regulator gene mutations in Bahrain.
[PMID 20797923] Mutational spectrum of cystic fibrosis in the Lebanese population.
