rs141033578
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;T) | 3 | cystic fibrosis carrier |
| Make rs141033578(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 7 |
| Position | 117606695 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs141033578 |
| dbSNP (classic) | rs141033578 |
| ClinGen | rs141033578 |
| ebi | rs141033578 |
| HLI | rs141033578 |
| Exac | rs141033578 |
| Gnomad | rs141033578 |
| Varsome | rs141033578 |
| LitVar | rs141033578 |
| Map | rs141033578 |
| PheGenI | rs141033578 |
| Biobank | rs141033578 |
| 1000 genomes | rs141033578 |
| hgdp | rs141033578 |
| ensembl | rs141033578 |
| geneview | rs141033578 |
| scholar | rs141033578 |
| rs141033578 | |
| pharmgkb | rs141033578 |
| gwascentral | rs141033578 |
| openSNP | rs141033578 |
| 23andMe | rs141033578 |
| SNPshot | rs141033578 |
| SNPdbe | rs141033578 |
| MSV3d | rs141033578 |
| GWAS Ctlg | rs141033578 |
| Max Magnitude | 3 |
Cystic fibrosis; c.2930C>T, p.Ser977Phe; note CFTR2 database indicates this mutation is of "varying clinical consequence"
named i5011706 by 23andMe
| ClinVar | |
|---|---|
| Risk | rs141033578(T;T) |
| Alt | rs141033578(T;T) |
| Reference | Rs141033578(C;C) |
| Significance | Untested |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117246749C>T |
| CLNSRC | |
| CLNACC | RCV000046725.2, |
