rs76554633
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | cystic fibrosis carrier |
| Make rs76554633(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117587808 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs76554633 |
| dbSNP (classic) | rs76554633 |
| ClinGen | rs76554633 |
| ebi | rs76554633 |
| HLI | rs76554633 |
| Exac | rs76554633 |
| Gnomad | rs76554633 |
| Varsome | rs76554633 |
| LitVar | rs76554633 |
| Map | rs76554633 |
| PheGenI | rs76554633 |
| Biobank | rs76554633 |
| 1000 genomes | rs76554633 |
| hgdp | rs76554633 |
| ensembl | rs76554633 |
| geneview | rs76554633 |
| scholar | rs76554633 |
| rs76554633 | |
| pharmgkb | rs76554633 |
| gwascentral | rs76554633 |
| openSNP | rs76554633 |
| 23andMe | rs76554633 |
| SNPshot | rs76554633 |
| SNPdbe | rs76554633 |
| MSV3d | rs76554633 |
| GWAS Ctlg | rs76554633 |
| Max Magnitude | 3 |
Cystic fibrosis; c.1654C>T, p.Gln552Ter
named i5006110 and i5011332 by 23andMe
| ClinVar | |
|---|---|
| Risk | rs76554633(T;T) |
| Alt | rs76554633(T;T) |
| Reference | Rs76554633(C;C) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117227862C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007622.5, |
