rs149790377
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 3 | cystic fibrosis carrier |
| (T;T) | 0 | common in clinvar |
| Make rs149790377(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117603613 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs149790377 |
| dbSNP (classic) | rs149790377 |
| ClinGen | rs149790377 |
| ebi | rs149790377 |
| HLI | rs149790377 |
| Exac | rs149790377 |
| Gnomad | rs149790377 |
| Varsome | rs149790377 |
| LitVar | rs149790377 |
| Map | rs149790377 |
| PheGenI | rs149790377 |
| Biobank | rs149790377 |
| 1000 genomes | rs149790377 |
| hgdp | rs149790377 |
| ensembl | rs149790377 |
| geneview | rs149790377 |
| scholar | rs149790377 |
| rs149790377 | |
| pharmgkb | rs149790377 |
| gwascentral | rs149790377 |
| openSNP | rs149790377 |
| 23andMe | rs149790377 |
| SNPshot | rs149790377 |
| SNPdbe | rs149790377 |
| MSV3d | rs149790377 |
| GWAS Ctlg | rs149790377 |
| Max Magnitude | 3 |
Cystic fibrosis; c.2739T>A, p.Tyr913Ter
named i5011647 by 23andMe
| ClinVar | |
|---|---|
| Risk | rs149790377(A;A) |
| Alt | rs149790377(A;A) |
| Reference | Rs149790377(T;T) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117243667T>A |
| CLNSRC | CFTR2 |
| CLNACC | RCV000046670.3, |
