rs28931568
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 4 | high risk of emphysema due to Alpha 1-Antitrypsin Deficiency |
| (A;G) | 3 | carrier for Alpha-1 Antitrypsin Deficiency |
| (G;G) | 0 | common in complete genomics |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 94382966 |
| Gene | SERPINA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28931568 |
| dbSNP (classic) | rs28931568 |
| ClinGen | rs28931568 |
| ebi | rs28931568 |
| HLI | rs28931568 |
| Exac | rs28931568 |
| Gnomad | rs28931568 |
| Varsome | rs28931568 |
| LitVar | rs28931568 |
| Map | rs28931568 |
| PheGenI | rs28931568 |
| Biobank | rs28931568 |
| 1000 genomes | rs28931568 |
| hgdp | rs28931568 |
| ensembl | rs28931568 |
| geneview | rs28931568 |
| scholar | rs28931568 |
| rs28931568 | |
| pharmgkb | rs28931568 |
| gwascentral | rs28931568 |
| openSNP | rs28931568 |
| 23andMe | rs28931568 |
| SNPshot | rs28931568 |
| SNPdbe | rs28931568 |
| MSV3d | rs28931568 |
| GWAS Ctlg | rs28931568 |
| Max Magnitude | 4 |
rs28931568 is a SNP representing an amino acid change in the SERPINA1 gene, which encodes alpha-1-antitrypsin (AAT).
Carriers of two rs28931568(A) alleles, i.e. homozygotes, are at high risk for emphysema based on the finding of this variant in an affected African-American family.[PMID 269618]
| ClinVar | |
|---|---|
| Risk | Rs28931568(A;A) |
| Alt | Rs28931568(A;A) |
| Reference | Rs28931568(G;G) |
| Significance | Other |
| Disease | PI M(MINERAL SPRINGS) Alpha-1-antitrypsin deficiency |
| Variation | info |
| Gene | SERPINA1 |
| CLNDBN | PI M(MINERAL SPRINGS) Alpha-1-antitrypsin deficiency |
| Reversed | 1 |
| HGVS | NC_000014.8:g.94849303C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019566.3, RCV000201855.1, |
