{{Rsnum
|rsid=28929474
|Gene=SERPINA1
|Chromosome=14
|position=94378610
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.007346
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=SERPINA1
}}[[rs28929474]], also known as Glu342Lys as well as E366K, is a SNP in the serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 [[SERPINA1]] gene.

This SNP is the one most frequently leading, when homozygous, to the complications of [[alpha-1 antitrypsin deficiency]] and the associated high risk of emphysema and liver disease. Between 1 - 2% of US Caucasians are thought to be (heterozygous) carriers for this SNP, leading some associations, like the [http://www.alpha-1foundation.org/ Alpha-1 Foundation], to call for mass carrier screening. 

* [http://blog.23andme.com/2009/09/17/snpwatch-genetic-flaw-that-causes-rare-metabolic-condition-may-also-increase-risk-of-severe-liver-disease-in-cystic-fibrosis/ 23andMe blog]  rs28929474(T) increases odds of liver disease in [[cystic fibrosis]] patients by 4.17 times. (T;T) at both copies of this SNP causes [[alpha-1 antitrypsin deficiency]]; note use of opposite strand nomenclature by this company.

{{omim
|desc=PI Z
|id=107400
|rsnum=28929474
|variant=0011
}}
{{omim
| id = 107400
| variant = 0028
| desc    = PI Z(AUGSBURG)
| rsnum   = 28929474
}}
{{ neighbor
| rsid = 28929473
| distance = 35
}}
{{ neighbor
| rsid = 28929471
| distance = 898
}}

{{ neighbor
| rsid = 28929475
| distance = 17
}}

{{PMID|21067581|OA=1
}} finds no association between [[rs28929474]] and pulmonary emphysema

{{PMID Auto
|PMID=21138453
|Title=Heterozygosity for the alpha1-antitrypsin Z allele may confer genetic risk of [[cholangiocarcinoma]]
}}

{{ClinVar
|rsid=28929474
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=94844947
|CHROM=14
|GMAF=0.0078
|dbSNPBuildID=129
|SSR=0
|SAO=1
|VP=0x050268000000040516110100
|GENEINFO=SERPINA1:5265
|GENE_NAME=SERPINA1
|GENE_ID=5265
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000014.8:g.94844947C>T
|CLNORIGIN=0
|CLNSIG=255
|Tags=RV;PM;PMC;S3D;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9927; 0.007346
|CLNACC=RCV000019567.1; RCV000019594.1; RCV000019595.1
|CLNDBN=PI Z; PI Z(AUGSBURG); PI Z(TUN)
|CLNSRC=GTR; OMIM Allelic Variant
|CLNSRCID=GTR000006840; GTR000323267; 107400.0011; 107400.0028
|COMMON=1
|Disease=PI Z; PI Z(AUGSBURG); PI Z(TUN)
}}

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

{{PMID|20170533|OA=1
}} 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|2904702}} Repair of the secretion defect in the Z form of alpha 1-antitrypsin by addition of a second mutation.

{{PMID|3259592}} Alpha 1-antitrypsin deficiency associated with panniculitis.

{{PMID|3264419}} Neonatal hepatitis induced by alpha 1-antitrypsin: a transgenic mouse model.

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}