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rs28931568

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 4 high risk of emphysema due to Alpha 1-Antitrypsin Deficiency
(A;G) 3.5 carrier of the most common cause of Alpha 1-Antitrypsin Deficiency
(G;G) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome14
Position94382966
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs28931568
ebirs28931568
HLIrs28931568
Exacrs28931568
Varsomers28931568
Maprs28931568
PheGenIrs28931568
hapmaprs28931568
1000 genomesrs28931568
hgdprs28931568
ensemblrs28931568
gopubmedrs28931568
geneviewrs28931568
scholarrs28931568
googlers28931568
pharmgkbrs28931568
gwascentralrs28931568
openSNPrs28931568
23andMers28931568
23andMe allrs28931568
SNP Nexus

SNPshotrs28931568
SNPdbers28931568
MSV3drs28931568
GWAS Ctlgrs28931568
Max Magnitude4
rs28931568 is a SNP representing an amino acid change in the SERPINA1 gene, which encodes alpha-1-antitrypsin (AAT).

Carriers of two rs28931568(A) alleles, i.e. homozygotes, are at high risk for emphysema based on the finding of this variant in an affected African-American family.[PMID 269618]

OMIM107400
DescPI M(MINERAL SPRINGS)
Variant0015
Relatedalso
Neighborrs28931572
Distance75
Neighborrs28931569
Distance78


ClinVar
Risk rs28931568(A;A)
Alt rs28931568(A;A)
Reference rs28931568(G;G)
Significance Other
Disease PI M(MINERAL SPRINGS)
Variation info
Gene SERPINA1
CLNDBN PI M(MINERAL SPRINGS)
Reversed 1
HGVS NC_000014.8:g.94849303C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019566.3,