rs121909011
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | carrier of a cystic fibrosis allele |
| Make rs121909011(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117540230 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121909011 |
| dbSNP (classic) | rs121909011 |
| ClinGen | rs121909011 |
| ebi | rs121909011 |
| HLI | rs121909011 |
| Exac | rs121909011 |
| Gnomad | rs121909011 |
| Varsome | rs121909011 |
| LitVar | rs121909011 |
| Map | rs121909011 |
| PheGenI | rs121909011 |
| Biobank | rs121909011 |
| 1000 genomes | rs121909011 |
| hgdp | rs121909011 |
| ensembl | rs121909011 |
| geneview | rs121909011 |
| scholar | rs121909011 |
| rs121909011 | |
| pharmgkb | rs121909011 |
| gwascentral | rs121909011 |
| openSNP | rs121909011 |
| 23andMe | rs121909011 |
| SNPshot | rs121909011 |
| SNPdbe | rs121909011 |
| MSV3d | rs121909011 |
| GWAS Ctlg | rs121909011 |
| GMAF | 0.0004591 |
| Max Magnitude | 3 |
Cystic fibrosis; c.1000C>T, R334W or Arg334Trp
named i4000296 by 23andMe, and also i5006070 and i5011077 aka R334W or Arg334Trp
| ClinVar | |
|---|---|
| Risk | rs121909011(T;T) |
| Alt | rs121909011(T;T) |
| Reference | Rs121909011(C;C) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis not provided |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis not provided |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117180284C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007559.8, RCV000224060.1, |
