rs77284892
From SNPedia
| Cystic Fibrosis related |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 3 | cystic fibrosis carrier |
| (C;C) | 0 | common in clinvar |
| Make rs77284892(A;A) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 7 |
| Position | 117509047 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs77284892 |
| dbSNP (classic) | rs77284892 |
| ClinGen | rs77284892 |
| ebi | rs77284892 |
| HLI | rs77284892 |
| Exac | rs77284892 |
| Gnomad | rs77284892 |
| Varsome | rs77284892 |
| LitVar | rs77284892 |
| Map | rs77284892 |
| PheGenI | rs77284892 |
| Biobank | rs77284892 |
| 1000 genomes | rs77284892 |
| hgdp | rs77284892 |
| ensembl | rs77284892 |
| geneview | rs77284892 |
| scholar | rs77284892 |
| rs77284892 | |
| pharmgkb | rs77284892 |
| gwascentral | rs77284892 |
| openSNP | rs77284892 |
| 23andMe | rs77284892 |
| SNPshot | rs77284892 |
| SNPdbe | rs77284892 |
| MSV3d | rs77284892 |
| GWAS Ctlg | rs77284892 |
| Max Magnitude | 3 |
Cystic fibrosis; c.178G>T, Glu60Ter or E60X
23andMe's name for this SNP is i5053835.
FTDNA & MyHeritage name: VG07S29384
| ClinVar | |
|---|---|
| Risk | rs77284892(A;A) rs77284892(T;T) |
| Alt | rs77284892(A;A) rs77284892(T;T) |
| Reference | Rs77284892(C;C) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 1 |
| HGVS | NC_000007.13:g.117149101G>A; NC_000007.13:g.117149101G>T |
| CLNSRC | CFTR2 |
| CLNACC | RCV000046474.2, RCV000056355.3, |
