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rs28931569

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(C;C) 4 high risk of emphysema
(T;T) 0 common in complete genomics
Make rs28931569(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position94383044
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs28931569
ebirs28931569
HLIrs28931569
Exacrs28931569
Varsomers28931569
Maprs28931569
PheGenIrs28931569
hapmaprs28931569
1000 genomesrs28931569
hgdprs28931569
ensemblrs28931569
gopubmedrs28931569
geneviewrs28931569
scholarrs28931569
googlers28931569
pharmgkbrs28931569
gwascentralrs28931569
openSNPrs28931569
23andMers28931569
23andMe allrs28931569
SNP Nexus

SNPshotrs28931569
SNPdbers28931569
MSV3drs28931569
GWAS Ctlgrs28931569
Max Magnitude4
rs28931569 is a SNP representing an amino acid change in the SERPINA1 gene, which encodes alpha-1-antitrypsin (AAT).

Carriers of two rs28931569(C) alleles, i.e. homozygotes, are at high risk for emphysema .[PMID 269618]

OMIM107400
DescPI M(PROCIDA)
Variant0016
Relatedalso
Neighborrs28931568
Distance78
Neighborrs28931570
Distance7


ClinVar
Risk rs28931569(C;C)
Alt rs28931569(C;C)
Reference rs28931569(T;T)
Significance Other
Disease PI M(PROCIDA)
Variation info
Gene SERPINA1
CLNDBN PI M(PROCIDA)
Reversed 1
HGVS NC_000014.8:g.94849381A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019571.3,



[PMID 3262617] Characterization of the gene and protein of the alpha 1-antitrypsin "deficiency" allele Mprocida.