rs193922497
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | cystic fibrosis carrier (most likely) |
| Make rs193922497(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117540284 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922497 |
| dbSNP (classic) | rs193922497 |
| ClinGen | rs193922497 |
| ebi | rs193922497 |
| HLI | rs193922497 |
| Exac | rs193922497 |
| Gnomad | rs193922497 |
| Varsome | rs193922497 |
| LitVar | rs193922497 |
| Map | rs193922497 |
| PheGenI | rs193922497 |
| Biobank | rs193922497 |
| 1000 genomes | rs193922497 |
| hgdp | rs193922497 |
| ensembl | rs193922497 |
| geneview | rs193922497 |
| scholar | rs193922497 |
| rs193922497 | |
| pharmgkb | rs193922497 |
| gwascentral | rs193922497 |
| openSNP | rs193922497 |
| 23andMe | rs193922497 |
| SNPshot | rs193922497 |
| SNPdbe | rs193922497 |
| MSV3d | rs193922497 |
| GWAS Ctlg | rs193922497 |
| GMAF | 0.0004591 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs193922497(T;T) |
| Alt | rs193922497(T;T) |
| Reference | Rs193922497(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117180338C>T |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000029469.3, |
[PMID 16126774] Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility.
[PMID 16189704] Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.
[PMID 18421494
] Mutations at arginine 352 alter the pore architecture of CFTR.
[PMID 19897426] A 10-year large-scale cystic fibrosis carrier screening in the Italian population.
