rs121908798
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;TAT) | 3 | carrier of a cystic fibrosis allele |
| (TAT;TAT) | 0 | common in clinvar |
| Make rs121908798(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117530950 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908798 |
| dbSNP (classic) | rs121908798 |
| ClinGen | rs121908798 |
| ebi | rs121908798 |
| HLI | rs121908798 |
| Exac | rs121908798 |
| Gnomad | rs121908798 |
| Varsome | rs121908798 |
| LitVar | rs121908798 |
| Map | rs121908798 |
| PheGenI | rs121908798 |
| Biobank | rs121908798 |
| 1000 genomes | rs121908798 |
| hgdp | rs121908798 |
| ensembl | rs121908798 |
| geneview | rs121908798 |
| scholar | rs121908798 |
| rs121908798 | |
| pharmgkb | rs121908798 |
| gwascentral | rs121908798 |
| openSNP | rs121908798 |
| 23andMe | rs121908798 |
| SNPshot | rs121908798 |
| SNPdbe | rs121908798 |
| MSV3d | rs121908798 |
| GWAS Ctlg | rs121908798 |
| Max Magnitude | 3 |
Cystic fibrosis; c.325_327delTATinsG, Tyr109Glyfs
There are seven 23andMe SNPs covering this replacement of 3 nucleotides (TAT) with a single nucleotide (G), but the company does not reveal which if any of the following SNPs from this region actually correspond to the known cystic fibrosis mutation at this position: i5010817, i5010818, i5010819, i5006106, i5010820, i5010821 and i5010822. Our guess is that it is i5010821; if you know if this is correct, please let us know.
| ClinVar | |
|---|---|
| Risk | rs121908798(G;G) |
| Alt | rs121908798(G;G) |
| Reference | Rs121908798(TAT;TAT) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117171004_117171006delTATinsG |
| CLNSRC | CFTR2 |
| CLNACC | RCV000056378.3, |
[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
