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rs267606950

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 5 Alpha1-anti-trypsin deficient homozygote; emphysema possible
(-;C) 3 carrier for Alpha-1 Antitrypsin Deficiency
(C;C) 0 common/normal
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position94382686
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs267606950
dbSNP (classic)rs267606950
ClinGenrs267606950
ebirs267606950
HLIrs267606950
Exacrs267606950
Gnomadrs267606950
Varsomers267606950
LitVarrs267606950
Maprs267606950
PheGenIrs267606950
Biobankrs267606950
1000 genomesrs267606950
hgdprs267606950
ensemblrs267606950
geneviewrs267606950
scholarrs267606950
googlers267606950
pharmgkbrs267606950
gwascentralrs267606950
openSNPrs267606950
23andMers267606950
23andMe allrs267606950
SNPshotrs267606950
SNPdbers267606950
MSV3drs267606950
GWAS Ctlgrs267606950
Max Magnitude5

c.552delC (p.Tyr184Terfs, Y160X, p.Tyr160Ter); also known as PI null (Granite Falls). OMIM indicates emphysema is associated with homozygosity.

Note: a 2018 publication lists this variant as pathogenic for several cancer types.[PMID 29625052OA-icon.png]

ClinVar
Risk Rs267606950(-;-)
Alt Rs267606950(-;-)
Reference Rs267606950(C;C)
Significance Other
Disease Alpha-1-antitrypsin deficiency PI Q0(GRANITE FALLS)
Variation info
Gene SERPINA1
CLNDBN Alpha-1-antitrypsin deficiency PI Q0(GRANITE FALLS)
Reversed 1
HGVS NC_000014.8:g.94849023delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000019579.5, RCV000019580.2,