rs193922500
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 3 | cystic fibrosis carrier (most likely) |
| (T;T) | 0 | common in clinvar |
| Make rs193922500(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117548798 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922500 |
| dbSNP (classic) | rs193922500 |
| ClinGen | rs193922500 |
| ebi | rs193922500 |
| HLI | rs193922500 |
| Exac | rs193922500 |
| Gnomad | rs193922500 |
| Varsome | rs193922500 |
| LitVar | rs193922500 |
| Map | rs193922500 |
| PheGenI | rs193922500 |
| Biobank | rs193922500 |
| 1000 genomes | rs193922500 |
| hgdp | rs193922500 |
| ensembl | rs193922500 |
| geneview | rs193922500 |
| scholar | rs193922500 |
| rs193922500 | |
| pharmgkb | rs193922500 |
| gwascentral | rs193922500 |
| openSNP | rs193922500 |
| 23andMe | rs193922500 |
| SNPshot | rs193922500 |
| SNPdbe | rs193922500 |
| MSV3d | rs193922500 |
| GWAS Ctlg | rs193922500 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs193922500(C;C) |
| Alt | rs193922500(C;C) |
| Reference | Rs193922500(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117188852T>C |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000029474.2, |
[PMID 12357328] Demographics of the UK cystic fibrosis population: implications for neonatal screening.
[PMID 12544470] Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test.
[PMID 14998948] Improved detection of cystic fibrosis mutations in infertility patients with DNA sequence analysis.
[PMID 17035430] Prospective analysis of cystic fibrosis transmembrane regulator mutations in adults with bronchiectasis or pulmonary nontuberculous mycobacterial infection.
[PMID 17968991] Cystic fibrosis in India.
