rs17473
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs17473(C;G) |
| Make rs17473(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 94619305 |
| Gene | SERPINA3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17473 |
| dbSNP (classic) | rs17473 |
| ClinGen | rs17473 |
| ebi | rs17473 |
| HLI | rs17473 |
| Exac | rs17473 |
| Gnomad | rs17473 |
| Varsome | rs17473 |
| LitVar | rs17473 |
| Map | rs17473 |
| PheGenI | rs17473 |
| Biobank | rs17473 |
| 1000 genomes | rs17473 |
| hgdp | rs17473 |
| ensembl | rs17473 |
| geneview | rs17473 |
| scholar | rs17473 |
| rs17473 | |
| pharmgkb | rs17473 |
| gwascentral | rs17473 |
| openSNP | rs17473 |
| 23andMe | rs17473 |
| SNPshot | rs17473 |
| SNPdbe | rs17473 |
| MSV3d | rs17473 |
| GWAS Ctlg | rs17473 |
| GMAF | 0.001837 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 21067581
] finds no association between rs17473 and pulmonary emphysema
| ClinVar | |
|---|---|
| Risk | rs17473(G;G) rs17473(T;T) |
| Alt | rs17473(G;G) rs17473(T;T) |
| Reference | Rs17473(C;C) |
| Significance | Pathogenic |
| Disease | ANTICHYMOTRYPSIN BONN 1 not specified |
| Variation | info |
| Gene | SERPINA3 |
| CLNDBN | ANTICHYMOTRYPSIN BONN 1 not specified |
| Reversed | 0 |
| HGVS | NC_000014.8:g.95085642C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019666.27, RCV000485718.1, |
[PMID 17054776] The genetics of chronic obstructive pulmonary disease.
