rs28931572

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0
(A;T)	3	carrier for Alpha-1 Antitrypsin Deficiency
(T;T)	0	common in complete genomics

Reference

GRCh38 38.1/141

Chromosome

14

Position

94382891

Gene

SERPINA1

is a	snp
is	mentioned by
dbSNP	rs28931572
dbSNP (classic)	rs28931572
ClinGen	rs28931572
ebi	rs28931572
HLI	rs28931572
Exac	rs28931572
Gnomad	rs28931572
Varsome	rs28931572
LitVar	rs28931572
Map	rs28931572
PheGenI	rs28931572
Biobank	rs28931572
1000 genomes	rs28931572
hgdp	rs28931572
ensembl	rs28931572
geneview	rs28931572
scholar	rs28931572
google	rs28931572
pharmgkb	rs28931572
gwascentral	rs28931572
openSNP	rs28931572
23andMe	rs28931572
SNPshot	rs28931572
SNPdbe	rs28931572
MSV3d	rs28931572
GWAS Ctlg	rs28931572

Max Magnitude

3

OMIM	107400
Desc	PI NULL(LUDWIGSHAFEN)
Variant	0031
Related	also

ClinVar
Risk	Rs28931572(A;A)
Alt	Rs28931572(A;A)
Reference	Rs28931572(T;T)
Significance	Other
Disease	PI NULL(LUDWIGSHAFEN) PI Q0(LUDWIGSHAFEN) Alpha-1-antitrypsin deficiency
Variation	info
Gene	SERPINA1
CLNDBN	PI NULL(LUDWIGSHAFEN) PI Q0(LUDWIGSHAFEN) Alpha-1-antitrypsin deficiency
Reversed	1
HGVS	NC_000014.8:g.94849228A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019601.3, RCV000019602.3, RCV000201851.1,

[PMID 18974877] Modifier effects between regulatory and protein-coding variation.