rs1802959
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs1802959(A;A) |
| Make rs1802959(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 94378628 |
| Gene | SERPINA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1802959 |
| dbSNP (classic) | rs1802959 |
| ClinGen | rs1802959 |
| ebi | rs1802959 |
| HLI | rs1802959 |
| Exac | rs1802959 |
| Gnomad | rs1802959 |
| Varsome | rs1802959 |
| LitVar | rs1802959 |
| Map | rs1802959 |
| PheGenI | rs1802959 |
| Biobank | rs1802959 |
| 1000 genomes | rs1802959 |
| hgdp | rs1802959 |
| ensembl | rs1802959 |
| geneview | rs1802959 |
| scholar | rs1802959 |
| rs1802959 | |
| pharmgkb | rs1802959 |
| gwascentral | rs1802959 |
| openSNP | rs1802959 |
| 23andMe | rs1802959 |
| SNPshot | rs1802959 |
| SNPdbe | rs1802959 |
| MSV3d | rs1802959 |
| GWAS Ctlg | rs1802959 |
| Merged from | Rs28929475 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1802959(A;A) rs1802959(C;C) |
| Alt | rs1802959(A;A) rs1802959(C;C) |
| Reference | Rs1802959(G;G) |
| Significance | Other |
| Disease | PI W(BETHESDA) |
| Variation | info |
| Gene | SERPINA1 |
| CLNDBN | PI W(BETHESDA) |
| Reversed | 1 |
| HGVS | NC_000014.8:g.94844965C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019596.3, |
[PMID 2185272
] Alpha 1-antitrypsin deficiency, emphysema, and liver disease. Genetic basis and strategies for therapy.
[PMID 2240842] Molecular analysis of the heterogeneity among the P-family of alpha-1-antitrypsin alleles.
