rs751235320

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;C)	3	Carrier for an Alpha-1 Antitrypsin Deficiency variant
(C;C)	0	common in clinvar

Make rs751235320(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

14

Position

94382591

Gene

SERPINA1

is a	snp
is	mentioned by
dbSNP	rs751235320
dbSNP (classic)	rs751235320
ClinGen	rs751235320
ebi	rs751235320
HLI	rs751235320
Exac	rs751235320
Gnomad	rs751235320
Varsome	rs751235320
LitVar	rs751235320
Map	rs751235320
PheGenI	rs751235320
Biobank	rs751235320
1000 genomes	rs751235320
hgdp	rs751235320
ensembl	rs751235320
geneview	rs751235320
scholar	rs751235320
google	rs751235320
pharmgkb	rs751235320
gwascentral	rs751235320
openSNP	rs751235320
23andMe	rs751235320
SNPshot	rs751235320
SNPdbe	rs751235320
MSV3d	rs751235320
GWAS Ctlg	rs751235320

Max Magnitude

3

ClinVar
Risk	rs751235320(A;A)
Alt	rs751235320(A;A)
Reference	Rs751235320(C;C)
Significance	Probable-Pathogenic
Disease	Alpha-1-antitrypsin deficiency
Variation	info
Gene	SERPINA1
CLNDBN	Alpha-1-antitrypsin deficiency
Reversed	0
HGVS	NC_000014.8:g.94848928C>A
CLNSRC
CLNACC	RCV000169461.1,