rs370038282
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs370038282(A;A) |
| Make rs370038282(A;C) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 14 |
| Position | 94383217 |
| Gene | SERPINA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs370038282 |
| dbSNP (classic) | rs370038282 |
| ClinGen | rs370038282 |
| ebi | rs370038282 |
| HLI | rs370038282 |
| Exac | rs370038282 |
| Gnomad | rs370038282 |
| Varsome | rs370038282 |
| LitVar | rs370038282 |
| Map | rs370038282 |
| PheGenI | rs370038282 |
| Biobank | rs370038282 |
| 1000 genomes | rs370038282 |
| hgdp | rs370038282 |
| ensembl | rs370038282 |
| geneview | rs370038282 |
| scholar | rs370038282 |
| rs370038282 | |
| pharmgkb | rs370038282 |
| gwascentral | rs370038282 |
| openSNP | rs370038282 |
| 23andMe | rs370038282 |
| SNPshot | rs370038282 |
| SNPdbe | rs370038282 |
| MSV3d | rs370038282 |
| GWAS Ctlg | rs370038282 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs370038282(A;A) rs370038282(T;T) |
| Alt | rs370038282(A;A) rs370038282(T;T) |
| Reference | Rs370038282(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.94849554C>T |
| CLNSRC | |
| CLNACC | RCV000411794.1, |
