rs193922532
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 3 | cystic fibrosis carrier (most likely) |
| Make rs193922532(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117536629 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922532 |
| dbSNP (classic) | rs193922532 |
| ClinGen | rs193922532 |
| ebi | rs193922532 |
| HLI | rs193922532 |
| Exac | rs193922532 |
| Gnomad | rs193922532 |
| Varsome | rs193922532 |
| LitVar | rs193922532 |
| Map | rs193922532 |
| PheGenI | rs193922532 |
| Biobank | rs193922532 |
| 1000 genomes | rs193922532 |
| hgdp | rs193922532 |
| ensembl | rs193922532 |
| geneview | rs193922532 |
| scholar | rs193922532 |
| rs193922532 | |
| pharmgkb | rs193922532 |
| gwascentral | rs193922532 |
| openSNP | rs193922532 |
| 23andMe | rs193922532 |
| SNPshot | rs193922532 |
| SNPdbe | rs193922532 |
| MSV3d | rs193922532 |
| GWAS Ctlg | rs193922532 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs193922532(G;G) |
| Alt | rs193922532(G;G) |
| Reference | Rs193922532(C;C) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117176683C>G |
| CLNSRC | ClinVar |
| CLNACC | RCV000029545.2, |
[PMID 10794365] Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations.
