rs1243164

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs1243164(G;T)

Make rs1243164(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

14

Position

94378133

Gene

SERPINA1

is a	snp
is	mentioned by
dbSNP	rs1243164
dbSNP (classic)	rs1243164
ClinGen	rs1243164
ebi	rs1243164
HLI	rs1243164
Exac	rs1243164
Gnomad	rs1243164
Varsome	rs1243164
LitVar	rs1243164
Map	rs1243164
PheGenI	rs1243164
Biobank	rs1243164
1000 genomes	rs1243164
hgdp	rs1243164
ensembl	rs1243164
geneview	rs1243164
scholar	rs1243164
google	rs1243164
pharmgkb	rs1243164
gwascentral	rs1243164
openSNP	rs1243164
23andMe	rs1243164
SNPshot	rs1243164
SNPdbe	rs1243164
MSV3d	rs1243164
GWAS Ctlg	rs1243164

Max Magnitude

0

?	(G;G) (G;T) (T;T)	28

ClinVar
Risk	rs1243164(A;A) rs1243164(T;T)
Alt	rs1243164(A;A) rs1243164(T;T)
Reference	Rs1243164(G;G)
Significance	Probable-non-pathogenic
Disease	Alpha-1-antitrypsin deficiency
Variation	info
Gene	SERPINA1
CLNDBN	Alpha-1-antitrypsin deficiency
Reversed	1
HGVS	NC_000014.8:g.94844470C>A
CLNSRC
CLNACC	RCV000274082.1,