rs556880586
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | carrier of a cystic fibrosis allele |
| (G;G) | 0 | common in clinvar |
| Make rs556880586(A;A) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 7 |
| Position | 117542016 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs556880586 |
| dbSNP (classic) | rs556880586 |
| ClinGen | rs556880586 |
| ebi | rs556880586 |
| HLI | rs556880586 |
| Exac | rs556880586 |
| Gnomad | rs556880586 |
| Varsome | rs556880586 |
| LitVar | rs556880586 |
| Map | rs556880586 |
| PheGenI | rs556880586 |
| Biobank | rs556880586 |
| 1000 genomes | rs556880586 |
| hgdp | rs556880586 |
| ensembl | rs556880586 |
| geneview | rs556880586 |
| scholar | rs556880586 |
| rs556880586 | |
| pharmgkb | rs556880586 |
| gwascentral | rs556880586 |
| openSNP | rs556880586 |
| 23andMe | rs556880586 |
| SNPshot | rs556880586 |
| SNPdbe | rs556880586 |
| MSV3d | rs556880586 |
| GWAS Ctlg | rs556880586 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs556880586(A;A) |
| Alt | rs556880586(A;A) |
| Reference | Rs556880586(G;G) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117182070G>A |
| CLNSRC | ClinVar |
| CLNACC | RCV000149423.1, |
