rs75549581
From SNPedia
| Cystic Fibrosis related |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 4 | cystic fibrosis carrier |
| (G;G) | 0 | common in clinvar |
| Make rs75549581(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 117587829 |
| Gene | CFTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs75549581 |
| dbSNP (classic) | rs75549581 |
| ClinGen | rs75549581 |
| ebi | rs75549581 |
| HLI | rs75549581 |
| Exac | rs75549581 |
| Gnomad | rs75549581 |
| Varsome | rs75549581 |
| LitVar | rs75549581 |
| Map | rs75549581 |
| PheGenI | rs75549581 |
| Biobank | rs75549581 |
| 1000 genomes | rs75549581 |
| hgdp | rs75549581 |
| ensembl | rs75549581 |
| geneview | rs75549581 |
| scholar | rs75549581 |
| rs75549581 | |
| pharmgkb | rs75549581 |
| gwascentral | rs75549581 |
| openSNP | rs75549581 |
| 23andMe | rs75549581 |
| SNPshot | rs75549581 |
| SNPdbe | rs75549581 |
| MSV3d | rs75549581 |
| GWAS Ctlg | rs75549581 |
| Max Magnitude | 4 |
rs75549581, also known as A559T or Ala559Thr, is a SNP in the CFTR gene considered pathogenic for cystic fibrosis.
23andMe refers to this SNP as i5006056 and i5011344.
| ClinVar | |
|---|---|
| Risk | rs75549581(A;A) |
| Alt | rs75549581(A;A) |
| Reference | Rs75549581(G;G) |
| Significance | Pathogenic |
| Disease | Cystic fibrosis Hereditary pancreatitis |
| Variation | info |
| Gene | CFTR |
| CLNDBN | Cystic fibrosis Hereditary pancreatitis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.117227883G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007543.6, RCV000319242.1, |
