rs1800463
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs1800463(C;C) |
| Make rs1800463(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 94614674 |
| Gene | SERPINA3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800463 |
| dbSNP (classic) | rs1800463 |
| ClinGen | rs1800463 |
| ebi | rs1800463 |
| HLI | rs1800463 |
| Exac | rs1800463 |
| Gnomad | rs1800463 |
| Varsome | rs1800463 |
| LitVar | rs1800463 |
| Map | rs1800463 |
| PheGenI | rs1800463 |
| Biobank | rs1800463 |
| 1000 genomes | rs1800463 |
| hgdp | rs1800463 |
| ensembl | rs1800463 |
| geneview | rs1800463 |
| scholar | rs1800463 |
| rs1800463 | |
| pharmgkb | rs1800463 |
| gwascentral | rs1800463 |
| openSNP | rs1800463 |
| 23andMe | rs1800463 |
| SNPshot | rs1800463 |
| SNPdbe | rs1800463 |
| MSV3d | rs1800463 |
| GWAS Ctlg | rs1800463 |
| Max Magnitude | 0 |
[PMID 21067581
] finds no association between rs1800463 and pulmonary emphysema
| ClinVar | |
|---|---|
| Risk | rs1800463(A;A) rs1800463(C;C) |
| Alt | rs1800463(A;A) rs1800463(C;C) |
| Reference | Rs1800463(T;T) |
| Significance | Pathogenic |
| Disease | ANTICHYMOTRYPSIN BOCHUM 1 |
| Variation | info |
| Gene | SERPINA3 |
| CLNDBN | ANTICHYMOTRYPSIN BOCHUM 1 |
| Reversed | 0 |
| HGVS | NC_000014.8:g.95081011T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019665.27, |
[PMID 17054776] The genetics of chronic obstructive pulmonary disease.
