rs80034486
From SNPedia
| Cystic Fibrosis related |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;G) | Cystic Fibrosis related | |
| (C;G) | 3 | Cystic fibrosis allele (carrier) |
| (G;G) | 0 | common in clinvar |
| Make rs80034486(C;C) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 7 |
| Position | 117652877 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80034486 |
| dbSNP (classic) | rs80034486 |
| ClinGen | rs80034486 |
| ebi | rs80034486 |
| HLI | rs80034486 |
| Exac | rs80034486 |
| Gnomad | rs80034486 |
| Varsome | rs80034486 |
| LitVar | rs80034486 |
| Map | rs80034486 |
| PheGenI | rs80034486 |
| Biobank | rs80034486 |
| 1000 genomes | rs80034486 |
| hgdp | rs80034486 |
| ensembl | rs80034486 |
| geneview | rs80034486 |
| scholar | rs80034486 |
| rs80034486 | |
| pharmgkb | rs80034486 |
| gwascentral | rs80034486 |
| openSNP | rs80034486 |
| 23andMe | rs80034486 |
| SNPshot | rs80034486 |
| SNPdbe | rs80034486 |
| MSV3d | rs80034486 |
| GWAS Ctlg | rs80034486 |
| GMAF | 0.0004591 |
| Max Magnitude | 3 |
Cystic fibrosis; c.3909C>G, p.Asn1303Lys; note orientation is minus in dbSNP and SNPedia
named i5012079 and i4000311 by 23andMe
| ClinVar | |
|---|---|
| Risk | rs80034486(C;C) |
| Alt | rs80034486(C;C) |
| Reference | Rs80034486(G;G) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis not provided |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis not provided |
| Reversed | 1 |
| HGVS | NC_000007.13:g.117292931C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007556.10, RCV000224445.2, |
