rs55819880
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | carrier for Alpha-1 Antitrypsin Deficiency |
| (G;G) | 0 | common in complete genomics |
| Make rs55819880(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 94383008 |
| Gene | SERPINA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs55819880 |
| dbSNP (classic) | rs55819880 |
| ClinGen | rs55819880 |
| ebi | rs55819880 |
| HLI | rs55819880 |
| Exac | rs55819880 |
| Gnomad | rs55819880 |
| Varsome | rs55819880 |
| LitVar | rs55819880 |
| Map | rs55819880 |
| PheGenI | rs55819880 |
| Biobank | rs55819880 |
| 1000 genomes | rs55819880 |
| hgdp | rs55819880 |
| ensembl | rs55819880 |
| geneview | rs55819880 |
| scholar | rs55819880 |
| rs55819880 | |
| pharmgkb | rs55819880 |
| gwascentral | rs55819880 |
| openSNP | rs55819880 |
| 23andMe | rs55819880 |
| SNPshot | rs55819880 |
| SNPdbe | rs55819880 |
| MSV3d | rs55819880 |
| GWAS Ctlg | rs55819880 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs55819880(T;T) |
| Alt | rs55819880(T;T) |
| Reference | Rs55819880(C;C) |
| Significance | Other |
| Disease | PI S(IIYAMA) Alpha-1-antitrypsin deficiency |
| Variation | info |
| Gene | SERPINA1 |
| CLNDBN | PI S(IIYAMA) Alpha-1-antitrypsin deficiency |
| Reversed | 1 |
| HGVS | NC_000014.8:g.94849345G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019608.2, RCV000169508.3, |
