{{Rsnum
|rsid=17580
|Gene=SERPINA1
|Chromosome=14
|position=94380925
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=T
|GMAF=0.03122
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene_s=SERPINA1
}}{{omim
| id = 107400
| variant = 0013
| desc    = PI S
| rsnum   = 17580
}}

{{ neighbor
| rsid = 28929472
| distance = 24
}}

[[rs17580]], also known as the S 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]]. See [[rs28929474]] for the most common pathologic SNP in the [[SERPINA1]] gene.

{{PMID|21067581|OA=1
}} finds no association between [[rs17580]] and pulmonary emphysema

{{PMID|21138453}} a relatively small study of 182 patients found no association between [[rs17580]] and risk for cholangiocarcinoma

{{ population diversity
| geno1 = (A;A)
| geno2 = (A;T)
| geno3 = 
| CEU | 90.0 | 10.0 | 0
| CHB | 100.0 | 0.0 | 0
| JPT | 100.0 | 0.0 | 0
| YRI | 100.0 | 0.0 | 0
}}

{{ClinVar
|rsid=17580
|Reversed=1
|FwdREF=A
|FwdALT=T
|REF=T
|ALT=A
|RSPOS=94847262
|CHROM=14
|GMAF=0.0311
|dbSNPBuildID=63
|SSR=0
|SAO=1
|VP=0x05036800000015051e110100
|GENEINFO=SERPINA1:5265
|GENE_NAME=SERPINA1
|GENE_ID=5265
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000014.8:g.94847262T>A
|CLNORIGIN=0
|CLNSIG=255
|Tags=RV;PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;LSD;OM
|CAF=0.9688; 0.03122
|CLNACC=RCV000019569.1
|CLNDBN=PI S
|CLNSRC=GTR; OMIM Allelic Variant
|CLNSRCID=GTR000006840; GTR000323267; 107400.0013
|COMMON=1
|Disease=PI S
}}

{{PMID Auto
|PMID=16608528
|Title=Genetic polymorphisms and susceptibility to lung disease.
|OA=1
}}

{{PMID Auto
|PMID=20170533
|Title=Prevalence of genetic polymorphisms in the promoter region of the alpha-1 antitrypsin (SERPINA1) gene in chronic liver disease: a case control study.
|OA=1
}}

{{PMID Auto
|PMID=22426792
|Title=Serum levels and genotype distribution of alpha1-antitrypsin in the general population.
}}

{{PMID Auto
|PMID=301355
|Title=Molecular abnormality of PI S variant of human alpha1-antitrypsin.
|OA=1
}}

{{PMID Auto
|PMID=2539391
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=22912729
|Title=SERPINA1 PiZ and PiS Heterozygotes and Lung Function Decline in the SAPALDIA Cohort
|OA=1
}}

{{GET Evidence
|gene=SERPINA1
|aa_change=Glu288Val
|aa_change_short=E288V
|impact=pathogenic
|qualified_impact=Low clinical importance,  pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs17580
|overall_frequency_n=328
|overall_frequency_d=10758
|overall_frequency=0.0304889
|n_genomes=4
|n_genomes_annotated=1
|n_haplomes=4
|n_articles=7
|n_articles_annotated=6
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=1
|qualitycomment_in_vitro=Y
|qualityscore_case_control=5
|qualitycomment_case_control=Y
|qualityscore_severity=2
|qualitycomment_severity=Y
|qualityscore_treatability=3
|gene_in_genetests=Y
|pph2_score=0.995
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=5
|autoscore=5
|n_web_uneval=8
|variant_evidence=0
|clinical_importance=2
|summary_short=This variant represents the PiS variant in alpha-1-antitrypsin deficiency where a homozygous individual has 60% enzymatic activity. This variant alone is unlikely to much effect, but 3-4% of heterozygotes are compound heterozygous with the more severe PiZ variant, which is associated with an increased risk of emphysema and COPD.
}}

[[Alpha-1 Antitrypsin Deficiency]]

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}