rs121909034
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 3 | carrier of a cystic fibrosis allele |
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | cystic fibrosis carrier |
| Make rs121909034(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117603609 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121909034 |
| dbSNP (classic) | rs121909034 |
| ClinGen | rs121909034 |
| ebi | rs121909034 |
| HLI | rs121909034 |
| Exac | rs121909034 |
| Gnomad | rs121909034 |
| Varsome | rs121909034 |
| LitVar | rs121909034 |
| Map | rs121909034 |
| PheGenI | rs121909034 |
| Biobank | rs121909034 |
| 1000 genomes | rs121909034 |
| hgdp | rs121909034 |
| ensembl | rs121909034 |
| geneview | rs121909034 |
| scholar | rs121909034 |
| rs121909034 | |
| pharmgkb | rs121909034 |
| gwascentral | rs121909034 |
| openSNP | rs121909034 |
| 23andMe | rs121909034 |
| SNPshot | rs121909034 |
| SNPdbe | rs121909034 |
| MSV3d | rs121909034 |
| GWAS Ctlg | rs121909034 |
| GMAF | 0.0 |
| Max Magnitude | 3 |
Cystic fibrosis; c.2735C>T, p.Ser912Leu as well as c.2735C>A, p.Ser912Ter
named i5011643, i5011644 and i5006133 by 23andMe
| ClinVar | |
|---|---|
| Risk | rs121909034(A;A) rs121909034(T;T) |
| Alt | rs121909034(A;A) rs121909034(T;T) |
| Reference | Rs121909034(C;C) |
| Significance | Other |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117243663C>A; NC_000007.13:g.117243663C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000046665.3, RCV000007626.5, RCV000007661.2, |
