rs267606950

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	5	Alpha1-anti-trypsin deficient homozygote; emphysema possible
(-;C)	3	carrier for Alpha-1 Antitrypsin Deficiency
(C;C)	0	common/normal

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

94382686

Gene

SERPINA1

is a	snp
is	mentioned by
dbSNP	rs267606950
dbSNP (classic)	rs267606950
ClinGen	rs267606950
ebi	rs267606950
HLI	rs267606950
Exac	rs267606950
Gnomad	rs267606950
Varsome	rs267606950
LitVar	rs267606950
Map	rs267606950
PheGenI	rs267606950
Biobank	rs267606950
1000 genomes	rs267606950
hgdp	rs267606950
ensembl	rs267606950
geneview	rs267606950
scholar	rs267606950
google	rs267606950
pharmgkb	rs267606950
gwascentral	rs267606950
openSNP	rs267606950
23andMe	rs267606950
SNPshot	rs267606950
SNPdbe	rs267606950
MSV3d	rs267606950
GWAS Ctlg	rs267606950

Max Magnitude

5

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 29625052]

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,