rs121912712

Orientation

minus

Stabilized

minus

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

Make rs121912712(A;A)

Make rs121912712(A;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

94378547

Gene

SERPINA1

is a	snp
is	mentioned by
dbSNP	rs121912712
dbSNP (classic)	rs121912712
ClinGen	rs121912712
ebi	rs121912712
HLI	rs121912712
Exac	rs121912712
Gnomad	rs121912712
Varsome	rs121912712
LitVar	rs121912712
Map	rs121912712
PheGenI	rs121912712
Biobank	rs121912712
1000 genomes	rs121912712
hgdp	rs121912712
ensembl	rs121912712
geneview	rs121912712
scholar	rs121912712
google	rs121912712
pharmgkb	rs121912712
gwascentral	rs121912712
openSNP	rs121912712
23andMe	rs121912712
SNPshot	rs121912712
SNPdbe	rs121912712
MSV3d	rs121912712
GWAS Ctlg	rs121912712

GMAF

0.0004591

Max Magnitude

0

OMIM	107400
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121912712(A;A)
Alt	rs121912712(A;A)
Reference	Rs121912712(G;G)
Significance	Other
Disease	PI CHRISTCHURCH Alpha-1-antitrypsin deficiency
Variation	info
Gene	SERPINA1
CLNDBN	PI CHRISTCHURCH Alpha-1-antitrypsin deficiency
Reversed	1
HGVS	NC_000014.8:g.94844884C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019564.3, RCV000201867.1,