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rs28929474

From SNPedia

Pi-Z allele
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 4 Alpha-1 Antitrypsin Deficiency
(A;G) 2 carrier for Alpha-1 Antitrypsin Deficiency
(G;G) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome14
Position94378610
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs28929474
ebirs28929474
HLIrs28929474
Exacrs28929474
Varsomers28929474
Maprs28929474
PheGenIrs28929474
hapmaprs28929474
1000 genomesrs28929474
hgdprs28929474
ensemblrs28929474
gopubmedrs28929474
geneviewrs28929474
scholarrs28929474
googlers28929474
pharmgkbrs28929474
gwascentralrs28929474
openSNPrs28929474
23andMers28929474
23andMe allrs28929474
SNP Nexus

SNPshotrs28929474
SNPdbers28929474
MSV3drs28929474
GWAS Ctlgrs28929474
GMAF0.007346
Max Magnitude4

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 Alpha-1 Foundation, to call for mass carrier screening.

Carriers of Alpha-1-antitrypsin have also been shown to be at risk for Granulomatosis with Polyangiitis GPA [PMID 11161981]

OMIM107400
DescPI Z
Variant0011
Relatedalso
OMIM107400
DescPI Z(AUGSBURG)
Variant0028
Relatedalso
Neighborrs28929473
Distance35
Neighborrs28929471
Distance898
Neighborrs28929475
Distance17


[PMID 21138453] Heterozygosity for the alpha1-antitrypsin Z allele may confer genetic risk of cholangiocarcinoma


ClinVar
Risk rs28929474(A;A)
Alt rs28929474(A;A)
Reference rs28929474(G;G)
Significance Other
Disease PI Z PI Z(AUGSBURG) PI Z(TUN) Alpha-1-antitrypsin deficiency FRAXE
Variation info
Gene SERPINA1
CLNDBN PI Z PI Z(AUGSBURG) PI Z(TUN) Alpha-1-antitrypsin deficiency FRAXE
Reversed 1
HGVS NC_000014.8:g.94844947C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019567.3, RCV000019594.2, RCV000019595.2, RCV000148877.3, RCV000194811.1,



[PMID 16608528OA-icon.png] Genetic polymorphisms and susceptibility to lung disease.

[PMID 20170533OA-icon.png] 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.


[PMID 25454901] Prevalence of alpha-1 antitrypsin high-risk variants in Mexican mestizo population and their association with lung function values


[PMID 26831755] A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height.