rs4934

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)		2.5x increased risk of Azheimer's and decreased age at onset
(A;G)		None
(G;G)	0	None

Reference

GRCh38 38.1/141

Chromosome

14

Position

94614466

Gene

SERPINA3

is a	snp
is	mentioned by
dbSNP	rs4934
dbSNP (classic)	rs4934
ClinGen	rs4934
ebi	rs4934
HLI	rs4934
Exac	rs4934
Gnomad	rs4934
Varsome	rs4934
LitVar	rs4934
Map	rs4934
PheGenI	rs4934
Biobank	rs4934
1000 genomes	rs4934
hgdp	rs4934
ensembl	rs4934
geneview	rs4934
scholar	rs4934
google	rs4934
pharmgkb	rs4934
gwascentral	rs4934
openSNP	rs4934
23andMe	rs4934
SNPshot	rs4934
SNPdbe	rs4934
MSV3d	rs4934
GWAS Ctlg	rs4934

GMAF

0.4362

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

rs4934 increases susceptibility to Alzheimer's disease 2.56 times for (A;A) homozygotes [PMID 10976648]

[PMID 18855268] systolic blood pressure increased with rs4934(A)

[PMID 21067581] finds no association between rs4934 and pulmonary emphysema

[PMID 19907165] Polymorphism rs4934 of SERPINA3 and Sporadic Intracranial Aneurysms in the Chinese Population

[PMID 16617143] Algorithm for automatic genotype calling of single nucleotide polymorphisms using the full course of TaqMan real-time data.

[PMID 17054776] The genetics of chronic obstructive pulmonary disease.

[PMID 19390575] Lung cancer susceptibility model based on age, family history and genetic variants.

ClinVar
Risk	Rs4934(A;A)
Alt	Rs4934(A;A)
Reference	Rs4934(G;G)
Significance	Non-pathogenic
Disease	ANTICHYMOTRYPSIN SIGNAL PEPTIDE POLYMORPHISM not specified
Variation	info
Gene	SERPINA3
CLNDBN	ANTICHYMOTRYPSIN SIGNAL PEPTIDE POLYMORPHISM not specified
Reversed	0
HGVS	NC_000014.8:g.95080803G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019667.2, RCV000455742.1,

[PMID 30121816] Genetic Risk Factors for Intracranial Aneurysm in the Kazakh Population.