rs121908786
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (;) | 0 | common in clinvar |
| (-;-) | 0 | common/normal |
| (-;A) | 3 | carrier of a cystic fibrosis allele |
| Make rs121908786(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117592219 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908786 |
| dbSNP (classic) | rs121908786 |
| ClinGen | rs121908786 |
| ebi | rs121908786 |
| HLI | rs121908786 |
| Exac | rs121908786 |
| Gnomad | rs121908786 |
| Varsome | rs121908786 |
| LitVar | rs121908786 |
| Map | rs121908786 |
| PheGenI | rs121908786 |
| Biobank | rs121908786 |
| 1000 genomes | rs121908786 |
| hgdp | rs121908786 |
| ensembl | rs121908786 |
| geneview | rs121908786 |
| scholar | rs121908786 |
| rs121908786 | |
| pharmgkb | rs121908786 |
| gwascentral | rs121908786 |
| openSNP | rs121908786 |
| 23andMe | rs121908786 |
| SNPshot | rs121908786 |
| SNPdbe | rs121908786 |
| MSV3d | rs121908786 |
| GWAS Ctlg | rs121908786 |
| Merged from | Rs746460279 |
| Max Magnitude | 3 |
Cystic fibrosis; c.2052_2053insA, p.Gln685Thrfs
named i5011485 by 23andMe
| ClinVar | |
|---|---|
| Risk | rs121908786(A;A) |
| Alt | rs121908786(A;A) |
| Reference | Rs121908786(-;-) |
| 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.117232273dupA |
| CLNSRC | CFTR2 |
| CLNACC | RCV000029493.4, RCV000152995.3, RCV000371652.1, |
[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
[PMID 1733107
] Cauliflower mosaic virus: a 420 subunit (T = 7), multilayer structure.
[PMID 9272157] Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.
[PMID 9482579] Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C).
[PMID 10923036] Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
[PMID 17378246] Rare genotype del2,3/2184insA in a cystic fibrosis patient.
[PMID 21296036] Distribution of CFTR mutations in Eastern Hungarians: relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis.
