rs121908751
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | carrier of a cystic fibrosis allele |
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | cystic fibrosis carrier |
| Make rs121908751(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117530899 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908751 |
| dbSNP (classic) | rs121908751 |
| ClinGen | rs121908751 |
| ebi | rs121908751 |
| HLI | rs121908751 |
| Exac | rs121908751 |
| Gnomad | rs121908751 |
| Varsome | rs121908751 |
| LitVar | rs121908751 |
| Map | rs121908751 |
| PheGenI | rs121908751 |
| Biobank | rs121908751 |
| 1000 genomes | rs121908751 |
| hgdp | rs121908751 |
| ensembl | rs121908751 |
| geneview | rs121908751 |
| scholar | rs121908751 |
| rs121908751 | |
| pharmgkb | rs121908751 |
| gwascentral | rs121908751 |
| openSNP | rs121908751 |
| 23andMe | rs121908751 |
| SNPshot | rs121908751 |
| SNPdbe | rs121908751 |
| MSV3d | rs121908751 |
| GWAS Ctlg | rs121908751 |
| Merged from | Rs121909027, Rs121909029 |
| Max Magnitude | 3 |
Cystic fibrosis; either c.274G>A or G>T, leading to Glu92Lys (E92K) or Glu92Ter (E92X)
named i5010782 and i5010783 by 23andMe
| ClinVar | |
|---|---|
| Risk | rs121908751(A;A) rs121908751(T;T) |
| Alt | rs121908751(A;A) rs121908751(T;T) |
| Reference | Rs121908751(G;G) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117170953G>A; NC_000007.13:g.117170953G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007601.5, RCV000007606.5, |
