rs764220898
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 3 | Carrier for an Alpha-1 Antitrypsin Deficiency variant |
| Make rs764220898(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 14 |
| Position | 94381043 |
| Gene | SERPINA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs764220898 |
| dbSNP (classic) | rs764220898 |
| ClinGen | rs764220898 |
| ebi | rs764220898 |
| HLI | rs764220898 |
| Exac | rs764220898 |
| Gnomad | rs764220898 |
| Varsome | rs764220898 |
| LitVar | rs764220898 |
| Map | rs764220898 |
| PheGenI | rs764220898 |
| Biobank | rs764220898 |
| 1000 genomes | rs764220898 |
| hgdp | rs764220898 |
| ensembl | rs764220898 |
| geneview | rs764220898 |
| scholar | rs764220898 |
| rs764220898 | |
| pharmgkb | rs764220898 |
| gwascentral | rs764220898 |
| openSNP | rs764220898 |
| 23andMe | rs764220898 |
| SNPshot | rs764220898 |
| SNPdbe | rs764220898 |
| MSV3d | rs764220898 |
| GWAS Ctlg | rs764220898 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs764220898(G;G) |
| Alt | rs764220898(G;G) |
| Reference | Rs764220898(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Alpha-1-antitrypsin deficiency |
| Variation | info |
| Gene | SERPINA1 |
| CLNDBN | Alpha-1-antitrypsin deficiency |
| Reversed | 0 |
| HGVS | NC_000014.8:g.94847380C>G |
| CLNSRC | |
| CLNACC | RCV000169405.1, |
