rs74597325
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Cystic fibrosis allele (carrier) |
| Make rs74597325(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117587811 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74597325 |
| dbSNP (classic) | rs74597325 |
| ClinGen | rs74597325 |
| ebi | rs74597325 |
| HLI | rs74597325 |
| Exac | rs74597325 |
| Gnomad | rs74597325 |
| Varsome | rs74597325 |
| LitVar | rs74597325 |
| Map | rs74597325 |
| PheGenI | rs74597325 |
| Biobank | rs74597325 |
| 1000 genomes | rs74597325 |
| hgdp | rs74597325 |
| ensembl | rs74597325 |
| geneview | rs74597325 |
| scholar | rs74597325 |
| rs74597325 | |
| pharmgkb | rs74597325 |
| gwascentral | rs74597325 |
| openSNP | rs74597325 |
| 23andMe | rs74597325 |
| SNPshot | rs74597325 |
| SNPdbe | rs74597325 |
| MSV3d | rs74597325 |
| GWAS Ctlg | rs74597325 |
| GMAF | 0.0004591 |
| Max Magnitude | 3 |
Cystic fibrosis; c.1657C>T, p.Arg553Ter
named i4000306, i5006055, i5011335 and i6056294 by 23andMe
FTDNA & MyHeritage name: VG07S29297
| ClinVar | |
|---|---|
| Risk | rs74597325(G;G) rs74597325(T;T) |
| Alt | rs74597325(G;G) rs74597325(T;T) |
| Reference | Rs74597325(C;C) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis Hereditary pancreatitis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis Hereditary pancreatitis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117227865C>G; NC_000007.13:g.117227865C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000046393.2, RCV000007542.9, RCV000279766.1, |
