rs144476686
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;T) | 3 | cystic fibrosis carrier (most likely) |
| (T;T) | 0 | common in clinvar |
| Make rs144476686(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117540188 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs144476686 |
| dbSNP (classic) | rs144476686 |
| ClinGen | rs144476686 |
| ebi | rs144476686 |
| HLI | rs144476686 |
| Exac | rs144476686 |
| Gnomad | rs144476686 |
| Varsome | rs144476686 |
| LitVar | rs144476686 |
| Map | rs144476686 |
| PheGenI | rs144476686 |
| Biobank | rs144476686 |
| 1000 genomes | rs144476686 |
| hgdp | rs144476686 |
| ensembl | rs144476686 |
| geneview | rs144476686 |
| scholar | rs144476686 |
| rs144476686 | |
| pharmgkb | rs144476686 |
| gwascentral | rs144476686 |
| openSNP | rs144476686 |
| 23andMe | rs144476686 |
| SNPshot | rs144476686 |
| SNPdbe | rs144476686 |
| MSV3d | rs144476686 |
| GWAS Ctlg | rs144476686 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs144476686(G;G) |
| Alt | rs144476686(G;G) |
| Reference | Rs144476686(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117180242T>G |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000029549.4, |
[PMID 20059485] Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
[PMID 20706124] A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation.
