rs20546
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs20546(C;T) |
| Make rs20546(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 14 |
| Position | 94382814 |
| Gene | SERPINA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs20546 |
| dbSNP (classic) | rs20546 |
| ClinGen | rs20546 |
| ebi | rs20546 |
| HLI | rs20546 |
| Exac | rs20546 |
| Gnomad | rs20546 |
| Varsome | rs20546 |
| LitVar | rs20546 |
| Map | rs20546 |
| PheGenI | rs20546 |
| Biobank | rs20546 |
| 1000 genomes | rs20546 |
| hgdp | rs20546 |
| ensembl | rs20546 |
| geneview | rs20546 |
| scholar | rs20546 |
| rs20546 | |
| pharmgkb | rs20546 |
| gwascentral | rs20546 |
| openSNP | rs20546 |
| 23andMe | rs20546 |
| SNPshot | rs20546 |
| SNPdbe | rs20546 |
| MSV3d | rs20546 |
| GWAS Ctlg | rs20546 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs20546(T;T) |
| Alt | rs20546(T;T) |
| Reference | Rs20546(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Alpha-1-antitrypsin deficiency |
| Variation | info |
| Gene | SERPINA1 |
| CLNDBN | not specified Alpha-1-antitrypsin deficiency |
| Reversed | 1 |
| HGVS | NC_000014.8:g.94849151G>A |
| CLNSRC | |
| CLNACC | RCV000155575.2, RCV000405780.1, |
