rs121908748
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Cystic Fibrosis carrier |
| (C;G) | 3 | cystic fibrosis carrier |
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | carrier of a cystic fibrosis allele |
| Make rs121908748(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117590440 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908748 |
| dbSNP (classic) | rs121908748 |
| ClinGen | rs121908748 |
| ebi | rs121908748 |
| HLI | rs121908748 |
| Exac | rs121908748 |
| Gnomad | rs121908748 |
| Varsome | rs121908748 |
| LitVar | rs121908748 |
| Map | rs121908748 |
| PheGenI | rs121908748 |
| Biobank | rs121908748 |
| 1000 genomes | rs121908748 |
| hgdp | rs121908748 |
| ensembl | rs121908748 |
| geneview | rs121908748 |
| scholar | rs121908748 |
| rs121908748 | |
| pharmgkb | rs121908748 |
| gwascentral | rs121908748 |
| openSNP | rs121908748 |
| 23andMe | rs121908748 |
| SNPshot | rs121908748 |
| SNPdbe | rs121908748 |
| MSV3d | rs121908748 |
| GWAS Ctlg | rs121908748 |
| Max Magnitude | 3 |
Cystic fibrosis; c.1766+1G>A, c.1766+1G>C and c.1766+1G>T; all are tagged pathogenic in CFTR2.
names used by 23andMe for this SNP include: i4000318, i5006139, i5011416, i5011417 and i5011418
| ClinVar | |
|---|---|
| Risk | rs121908748(A;A) rs121908748(C;C) rs121908748(T;T) |
| Alt | rs121908748(A;A) rs121908748(C;C) rs121908748(T;T) |
| Reference | Rs121908748(G;G) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117230494G>A; NC_000007.13:g.117230494G>C; NC_000007.13:g.117230494G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007588.8, RCV000046463.3, RCV000046464.2, |
[PMID 11866018] Identification of a new cystic fibrosis transmembrane regulator mutation in a severely affected patient.
[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
[PMID 15371902
] Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
[PMID 15371903] CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.
