rs74767530
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier for a cystic fibrosis allele |
| (G;G) | 0 | common in clinvar |
| Make rs74767530(A;A) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 7 |
| Position | 117627537 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74767530 |
| dbSNP (classic) | rs74767530 |
| ClinGen | rs74767530 |
| ebi | rs74767530 |
| HLI | rs74767530 |
| Exac | rs74767530 |
| Gnomad | rs74767530 |
| Varsome | rs74767530 |
| LitVar | rs74767530 |
| Map | rs74767530 |
| PheGenI | rs74767530 |
| Biobank | rs74767530 |
| 1000 genomes | rs74767530 |
| hgdp | rs74767530 |
| ensembl | rs74767530 |
| geneview | rs74767530 |
| scholar | rs74767530 |
| rs74767530 | |
| pharmgkb | rs74767530 |
| gwascentral | rs74767530 |
| openSNP | rs74767530 |
| 23andMe | rs74767530 |
| SNPshot | rs74767530 |
| SNPdbe | rs74767530 |
| MSV3d | rs74767530 |
| GWAS Ctlg | rs74767530 |
| Max Magnitude | 3 |
Cystic fibrosis; c.3484C>T, p.Arg1162Ter (but note dbSNP orientation for this SNP is minus strand)
named i5011932, i4000308 and i6056298 by 23andMe
FTDNA & MyHeritage name: VG07S29424
| ClinVar | |
|---|---|
| Risk | rs74767530(A;A) |
| Alt | rs74767530(A;A) |
| Reference | Rs74767530(G;G) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 1 |
| HGVS | NC_000007.13:g.117267591C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007557.8, |
