rs77101217
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | cystic fibrosis carrier |
| Make rs77101217(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117559548 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs77101217 |
| dbSNP (classic) | rs77101217 |
| ClinGen | rs77101217 |
| ebi | rs77101217 |
| HLI | rs77101217 |
| Exac | rs77101217 |
| Gnomad | rs77101217 |
| Varsome | rs77101217 |
| LitVar | rs77101217 |
| Map | rs77101217 |
| PheGenI | rs77101217 |
| Biobank | rs77101217 |
| 1000 genomes | rs77101217 |
| hgdp | rs77101217 |
| ensembl | rs77101217 |
| geneview | rs77101217 |
| scholar | rs77101217 |
| rs77101217 | |
| pharmgkb | rs77101217 |
| gwascentral | rs77101217 |
| openSNP | rs77101217 |
| 23andMe | rs77101217 |
| SNPshot | rs77101217 |
| SNPdbe | rs77101217 |
| MSV3d | rs77101217 |
| GWAS Ctlg | rs77101217 |
| Max Magnitude | 3 |
Cystic fibrosis; c.1477C>T, p.Gln493Ter
named i5006047 and i5011248 by 23andMe
| ClinVar | |
|---|---|
| Risk | rs77101217(T;T) |
| Alt | rs77101217(T;T) |
| Reference | Rs77101217(C;C) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117199602C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007526.5, |
