rs1057516448

Orientation

minus

Stabilized

minus

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

Make rs1057516448(-;-)

Make rs1057516448(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

94381074

Gene

SERPINA1

is a	snp
is	mentioned by
dbSNP	rs1057516448
dbSNP (classic)	rs1057516448
ClinGen	rs1057516448
ebi	rs1057516448
HLI	rs1057516448
Exac	rs1057516448
Gnomad	rs1057516448
Varsome	rs1057516448
LitVar	rs1057516448
Map	rs1057516448
PheGenI	rs1057516448
Biobank	rs1057516448
1000 genomes	rs1057516448
hgdp	rs1057516448
ensembl	rs1057516448
geneview	rs1057516448
scholar	rs1057516448
google	rs1057516448
pharmgkb	rs1057516448
gwascentral	rs1057516448
openSNP	rs1057516448
23andMe	rs1057516448
SNPshot	rs1057516448
SNPdbe	rs1057516448
MSV3d	rs1057516448
GWAS Ctlg	rs1057516448

Max Magnitude

0

ClinVar
Risk	rs1057516448(-;-)
Alt	rs1057516448(-;-)
Reference	Rs1057516448(C;C)
Significance	Probable-Pathogenic
Disease	Alpha-1-antitrypsin deficiency
Variation	info
Gene	SERPINA1
CLNDBN	Alpha-1-antitrypsin deficiency
Reversed	1
HGVS	NC_000014.8:g.94847411delG
CLNSRC
CLNACC	RCV000410206.1,