rs17580
| Pi-S allele |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| (A;T) | 2.3 | Carrier of one PiS variant; slight chance of Alpha-1 Antitrypsin Deficiency |
| (T;T) | 2.5 | a slightly reduced functionality form of Alpha-1 Antitrypsin Deficiency |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 94380925 |
| Gene | SERPINA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17580 |
| dbSNP (classic) | rs17580 |
| ClinGen | rs17580 |
| ebi | rs17580 |
| HLI | rs17580 |
| Exac | rs17580 |
| Gnomad | rs17580 |
| Varsome | rs17580 |
| LitVar | rs17580 |
| Map | rs17580 |
| PheGenI | rs17580 |
| Biobank | rs17580 |
| 1000 genomes | rs17580 |
| hgdp | rs17580 |
| ensembl | rs17580 |
| geneview | rs17580 |
| scholar | rs17580 |
| rs17580 | |
| pharmgkb | rs17580 |
| gwascentral | rs17580 |
| openSNP | rs17580 |
| 23andMe | rs17580 |
| SNPshot | rs17580 |
| SNPdbe | rs17580 |
| MSV3d | rs17580 |
| GWAS Ctlg | rs17580 |
| GMAF | 0.03122 |
| Max Magnitude | 2.5 |
rs17580, also known as the S or PiS allele, is a SNP in the SERPINA1 gene.
Levels of alpha-1 antitrypsin (encoded by the SERPINA1 gene) may be reduced in carriers of the rs17580(T) allele, but there is no known association with liver disease or cystic fibrosis. The rs17580 PiS variant is most associated with risk of developing COPD, especially in smokers, but it's association with emphysema is variable. See rs28929474 for the most common pathologic SNP (PiZ) in the SERPINA1 gene.
Due to orientation, be careful when interpreting results for this SNP which is an ambiguous flip.
[PMID 21138453] a relatively small study of 182 patients found no association between rs17580 and risk for cholangiocarcinoma
| ? | (A;A) (A;T) | |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs17580(T;T) |
| Alt | Rs17580(T;T) |
| Reference | Rs17580(A;A) |
| Significance | Other |
| Disease | PI S Alpha-1-antitrypsin deficiency not provided |
| Variation | info |
| Gene | SERPINA1 |
| CLNDBN | PI S Alpha-1-antitrypsin deficiency not provided |
| Reversed | 1 |
| HGVS | NC_000014.8:g.94847262T>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019569.2, RCV000148878.7, RCV000177031.2, |
[PMID 16608528
] Genetic polymorphisms and susceptibility to lung disease.
[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 22426792] Serum levels and genotype distribution of alpha1-antitrypsin in the general population.
[PMID 301355] Molecular abnormality of PI S variant of human alpha1-antitrypsin.
[PMID 2539391] Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin.
[PMID 22912729] SERPINA1 PiZ and PiS Heterozygotes and Lung Function Decline in the SAPALDIA Cohort
Alpha-1 Antitrypsin Deficiency
[PMID 25454901] Prevalence of alpha-1 antitrypsin high-risk variants in Mexican mestizo population and their association with lung function values
[PMID 31298815] SERPINA1 gene polymorphisms in a population-based ALSPAC cohort.
[PMID 31517326] SERPINA1 and HSD17B13 Gene Variants in Patients with Liver Fibrosis and Cirrhosis.
