rs8004738
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs8004738(A;A) |
| Make rs8004738(A;G) |
| Make rs8004738(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 94390577 |
| Gene | SERPINA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs8004738 |
| dbSNP (classic) | rs8004738 |
| ClinGen | rs8004738 |
| ebi | rs8004738 |
| HLI | rs8004738 |
| Exac | rs8004738 |
| Gnomad | rs8004738 |
| Varsome | rs8004738 |
| LitVar | rs8004738 |
| Map | rs8004738 |
| PheGenI | rs8004738 |
| Biobank | rs8004738 |
| 1000 genomes | rs8004738 |
| hgdp | rs8004738 |
| ensembl | rs8004738 |
| geneview | rs8004738 |
| scholar | rs8004738 |
| rs8004738 | |
| pharmgkb | rs8004738 |
| gwascentral | rs8004738 |
| openSNP | rs8004738 |
| 23andMe | rs8004738 |
| SNPshot | rs8004738 |
| SNPdbe | rs8004738 |
| MSV3d | rs8004738 |
| GWAS Ctlg | rs8004738 |
| GMAF | 0.4532 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 21067581
] finds no association between rs8004738 and pulmonary emphysema
[PMID 21138453] Heterozygosity for the alpha1-antitrypsin Z allele may confer genetic risk of cholangiocarcinoma
[PMID 20170533] Prevalence of genetic polymorphisms in the promoter region of the alpha-1 antitrypsin (SERPINA1) gene in chronic liver disease: a case control study.
[PMID 20808897] Disease-associated mutations that alter the RNA structural ensemble.
[PMID 28138235] Interactions between single nucleotide polymorphism of SERPINA1 gene and smoking in association with COPD: a case-control study.
[PMID 31298815] SERPINA1 gene polymorphisms in a population-based ALSPAC cohort.
