rs864622043

Orientation

minus

Stabilized

minus

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

Make rs864622043(AAAAACA;AAAAACA)

Make rs864622043(AAAAACA;GAAGCTGC)

Reference

GRCh38.p2 38.2/146

Chromosome

14

Position

94378591

Gene

SERPINA1

is a	snp
is	mentioned by
dbSNP	rs864622043
dbSNP (classic)	rs864622043
ClinGen	rs864622043
ebi	rs864622043
HLI	rs864622043
Exac	rs864622043
Gnomad	rs864622043
Varsome	rs864622043
LitVar	rs864622043
Map	rs864622043
PheGenI	rs864622043
Biobank	rs864622043
1000 genomes	rs864622043
hgdp	rs864622043
ensembl	rs864622043
geneview	rs864622043
scholar	rs864622043
google	rs864622043
pharmgkb	rs864622043
gwascentral	rs864622043
openSNP	rs864622043
23andMe	rs864622043
SNPshot	rs864622043
SNPdbe	rs864622043
MSV3d	rs864622043
GWAS Ctlg	rs864622043

Max Magnitude

0

ClinVar
Risk	rs864622043(AAAAACA;AAAAACA)
Alt	rs864622043(AAAAACA;AAAAACA)
Reference	Rs864622043(GAAGCTGC;GAAGCTGC)
Significance	Pathogenic
Disease	Alpha-1-antitrypsin deficiency
Variation	info
Gene	SERPINA1
CLNDBN	Alpha-1-antitrypsin deficiency
Reversed	1
HGVS	NC_000014.8:g.94844928_94844935delGCAGCTTCinsTGTTTTT
CLNSRC
CLNACC	RCV000204775.1,