rs11832
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs11832(A;G) |
| Make rs11832(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 94377228 |
| Gene | SERPINA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11832 |
| dbSNP (classic) | rs11832 |
| ClinGen | rs11832 |
| ebi | rs11832 |
| HLI | rs11832 |
| Exac | rs11832 |
| Gnomad | rs11832 |
| Varsome | rs11832 |
| LitVar | rs11832 |
| Map | rs11832 |
| PheGenI | rs11832 |
| Biobank | rs11832 |
| 1000 genomes | rs11832 |
| hgdp | rs11832 |
| ensembl | rs11832 |
| geneview | rs11832 |
| scholar | rs11832 |
| rs11832 | |
| pharmgkb | rs11832 |
| gwascentral | rs11832 |
| openSNP | rs11832 |
| 23andMe | rs11832 |
| SNPshot | rs11832 |
| SNPdbe | rs11832 |
| MSV3d | rs11832 |
| GWAS Ctlg | rs11832 |
| GMAF | 0.4449 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 21067581
] finds no association between rs11832 and pulmonary emphysema
| ClinVar | |
|---|---|
| Risk | rs11832(G;G) |
| Alt | rs11832(G;G) |
| Reference | Rs11832(A;A) |
| Significance | Non-pathogenic |
| Disease | Alpha-1-antitrypsin deficiency |
| Variation | info |
| Gene | SERPINA1 |
| CLNDBN | Alpha-1-antitrypsin deficiency |
| Reversed | 1 |
| HGVS | NC_000014.8:g.94843565T>C |
| CLNSRC | |
| CLNACC | RCV000281319.1, |
[PMID 31298815] SERPINA1 gene polymorphisms in a population-based ALSPAC cohort.
