rs28929470
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs28929470(C;T) |
| Make rs28929470(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 14 |
| Position | 94381049 |
| Gene | SERPINA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28929470 |
| dbSNP (classic) | rs28929470 |
| ClinGen | rs28929470 |
| ebi | rs28929470 |
| HLI | rs28929470 |
| Exac | rs28929470 |
| Gnomad | rs28929470 |
| Varsome | rs28929470 |
| LitVar | rs28929470 |
| Map | rs28929470 |
| PheGenI | rs28929470 |
| Biobank | rs28929470 |
| 1000 genomes | rs28929470 |
| hgdp | rs28929470 |
| ensembl | rs28929470 |
| geneview | rs28929470 |
| scholar | rs28929470 |
| rs28929470 | |
| pharmgkb | rs28929470 |
| gwascentral | rs28929470 |
| openSNP | rs28929470 |
| 23andMe | rs28929470 |
| SNPshot | rs28929470 |
| SNPdbe | rs28929470 |
| MSV3d | rs28929470 |
| GWAS Ctlg | rs28929470 |
| GMAF | 0.001377 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28929470(A;A) rs28929470(T;T) |
| Alt | rs28929470(A;A) rs28929470(T;T) |
| Reference | Rs28929470(C;C) |
| Significance | Other |
| Disease | PI F Alpha-1-antitrypsin deficiency not specified |
| Variation | info |
| Gene | SERPINA1 |
| CLNDBN | PI F Alpha-1-antitrypsin deficiency not specified |
| Reversed | 1 |
| HGVS | NC_000014.8:g.94847386G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019561.3, RCV000148879.1, RCV000151833.1, RCV000205893.1, |
[PMID 31298815] SERPINA1 gene polymorphisms in a population-based ALSPAC cohort.
