rs1243166

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common/normal
(T;T)	0	common in clinvar

Make rs1243166(C;T)

Reference

GRCh38.p2 38.2/147

Chromosome

14

Position

94377481

Gene

SERPINA1

is a	snp
is	mentioned by
dbSNP	rs1243166
dbSNP (classic)	rs1243166
ClinGen	rs1243166
ebi	rs1243166
HLI	rs1243166
Exac	rs1243166
Gnomad	rs1243166
Varsome	rs1243166
LitVar	rs1243166
Map	rs1243166
PheGenI	rs1243166
Biobank	rs1243166
1000 genomes	rs1243166
hgdp	rs1243166
ensembl	rs1243166
geneview	rs1243166
scholar	rs1243166
google	rs1243166
pharmgkb	rs1243166
gwascentral	rs1243166
openSNP	rs1243166
23andMe	rs1243166
SNPshot	rs1243166
SNPdbe	rs1243166
MSV3d	rs1243166
GWAS Ctlg	rs1243166

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

ClinVar
Risk	Rs1243166(C;C)
Alt	Rs1243166(C;C)
Reference	Rs1243166(T;T)
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.94843818A>G
CLNSRC
CLNACC	RCV000342331.1,