rs28931570

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in complete genomics
(G;G)	0

Make rs28931570(C;T)

Make rs28931570(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

94383051

Gene

SERPINA1

is a	snp
is	mentioned by
dbSNP	rs28931570
dbSNP (classic)	rs28931570
ClinGen	rs28931570
ebi	rs28931570
HLI	rs28931570
Exac	rs28931570
Gnomad	rs28931570
Varsome	rs28931570
LitVar	rs28931570
Map	rs28931570
PheGenI	rs28931570
Biobank	rs28931570
1000 genomes	rs28931570
hgdp	rs28931570
ensembl	rs28931570
geneview	rs28931570
scholar	rs28931570
google	rs28931570
pharmgkb	rs28931570
gwascentral	rs28931570
openSNP	rs28931570
23andMe	rs28931570
SNPshot	rs28931570
SNPdbe	rs28931570
MSV3d	rs28931570
GWAS Ctlg	rs28931570

GMAF

0.001377

Max Magnitude

0

OMIM	107400
Desc	PI I
Variant	0018
Related	also

ClinVar
Risk	rs28931570(T;T)
Alt	rs28931570(T;T)
Reference	Rs28931570(C;C)
Significance	Other
Disease	PI I Alpha-1-antitrypsin deficiency not specified not provided
Variation	info
Gene	SERPINA1
CLNDBN	PI I Alpha-1-antitrypsin deficiency not specified not provided
Reversed	1
HGVS	NC_000014.8:g.94849388G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019575.3, RCV000148875.2, RCV000175577.1, RCV000205893.1, RCV000431149.1,