rs199422211

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common genotype
(A;T)	3	carrier for Alpha-1 Antitrypsin Deficiency

Make rs199422211(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

14

Position

94381067

Gene

SERPINA1

is a	snp
is	mentioned by
dbSNP	rs199422211
dbSNP (classic)	rs199422211
ClinGen	rs199422211
ebi	rs199422211
HLI	rs199422211
Exac	rs199422211
Gnomad	rs199422211
Varsome	rs199422211
LitVar	rs199422211
Map	rs199422211
PheGenI	rs199422211
Biobank	rs199422211
1000 genomes	rs199422211
hgdp	rs199422211
ensembl	rs199422211
geneview	rs199422211
scholar	rs199422211
google	rs199422211
pharmgkb	rs199422211
gwascentral	rs199422211
openSNP	rs199422211
23andMe	rs199422211
SNPshot	rs199422211
SNPdbe	rs199422211
MSV3d	rs199422211
GWAS Ctlg	rs199422211

Max Magnitude

3

ClinVar
Risk	rs199422211(T;T)
Alt	rs199422211(T;T)
Reference	Rs199422211(A;A)
Significance	Other
Disease	PI NULL(BELLINGHAM) PI Q0(BELLINGHAM) Alpha-1-antitrypsin deficiency
Variation	info
Gene	SERPINA1
CLNDBN	PI NULL(BELLINGHAM) PI Q0(BELLINGHAM) Alpha-1-antitrypsin deficiency
Reversed	1
HGVS	NC_000014.8:g.94847404T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019581.2, RCV000019582.2, RCV000169162.1,