rs199422210
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs199422210(C;G) |
| Make rs199422210(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 14 |
| Position | 94382686 |
| Gene | SERPINA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199422210 |
| dbSNP (classic) | rs199422210 |
| ClinGen | rs199422210 |
| ebi | rs199422210 |
| HLI | rs199422210 |
| Exac | rs199422210 |
| Gnomad | rs199422210 |
| Varsome | rs199422210 |
| LitVar | rs199422210 |
| Map | rs199422210 |
| PheGenI | rs199422210 |
| Biobank | rs199422210 |
| 1000 genomes | rs199422210 |
| hgdp | rs199422210 |
| ensembl | rs199422210 |
| geneview | rs199422210 |
| scholar | rs199422210 |
| rs199422210 | |
| pharmgkb | rs199422210 |
| gwascentral | rs199422210 |
| openSNP | rs199422210 |
| 23andMe | rs199422210 |
| SNPshot | rs199422210 |
| SNPdbe | rs199422210 |
| MSV3d | rs199422210 |
| GWAS Ctlg | rs199422210 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199422210(A;A) rs199422210(G;G) rs199422210(T;T) |
| Alt | rs199422210(A;A) rs199422210(G;G) rs199422210(T;T) |
| Reference | Rs199422210(C;C) |
| Significance | Probable-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.94849023G>A; NC_000014.8:g.94849023G>C |
| CLNSRC | |
| CLNACC | RCV000388199.1, RCV000169206.1, |
