rs199422209

Orientation

minus

Stabilized

minus

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

Make rs199422209(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

94378528

Gene

SERPINA1

is a	snp
is	mentioned by
dbSNP	rs199422209
dbSNP (classic)	rs199422209
ClinGen	rs199422209
ebi	rs199422209
HLI	rs199422209
Exac	rs199422209
Gnomad	rs199422209
Varsome	rs199422209
LitVar	rs199422209
Map	rs199422209
PheGenI	rs199422209
Biobank	rs199422209
1000 genomes	rs199422209
hgdp	rs199422209
ensembl	rs199422209
geneview	rs199422209
scholar	rs199422209
google	rs199422209
pharmgkb	rs199422209
gwascentral	rs199422209
openSNP	rs199422209
23andMe	rs199422209
SNPshot	rs199422209
SNPdbe	rs199422209
MSV3d	rs199422209
GWAS Ctlg	rs199422209

Max Magnitude

3

ClinVar
Risk	rs199422209(A;A) rs199422209(G;G) rs199422209(T;T)
Alt	rs199422209(A;A) rs199422209(G;G) rs199422209(T;T)
Reference	Rs199422209(C;C)
Significance	Other
Disease	PI M(HEERLEN) Alpha-1-antitrypsin deficiency
Variation	info
Gene	SERPINA1
CLNDBN	PI M(HEERLEN) Alpha-1-antitrypsin deficiency
Reversed	1
HGVS	NC_000014.8:g.94844865G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019565.2, RCV000409001.2,