rs7493

Orientation

minus

Stabilized

minus

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

Make rs7493(C;G)

Make rs7493(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

95405463

Gene

PON2

is a	snp
is	mentioned by
dbSNP	rs7493
dbSNP (classic)	rs7493
ClinGen	rs7493
ebi	rs7493
HLI	rs7493
Exac	rs7493
Gnomad	rs7493
Varsome	rs7493
LitVar	rs7493
Map	rs7493
PheGenI	rs7493
Biobank	rs7493
1000 genomes	rs7493
hgdp	rs7493
ensembl	rs7493
geneview	rs7493
scholar	rs7493
google	rs7493
pharmgkb	rs7493
gwascentral	rs7493
openSNP	rs7493
23andMe	rs7493
SNPshot	rs7493
SNPdbe	rs7493
MSV3d	rs7493
GWAS Ctlg	rs7493

Merged from

Rs6954345

GMAF

0.2567

Max Magnitude

0

?	(C;C) (C;G) (G;G)	28

rs7493, also known as Ser311Cys, is a missense SNP in the paraoxonase 2 (PON2) gene.

A study has shown that inheriting the Cys version encoded by the corresponding SNP results in impaired (lower) lactonase activity; this may (or may not) lead to problems with innate immunity, atherosclerosis, and other diseases.[PMID 19840942]

OMIM	602447
Desc
Variant	0001
Related	also

[PMID 22016051] Leads from xenobiotic metabolism genes for Parkinson's disease among north Indians

ClinVar
Risk	rs7493(G;G)
Alt	rs7493(G;G)
Reference	Rs7493(C;C)
Significance	Non-pathogenic
Disease	PARAOXONASE 2 POLYMORPHISM
Variation	info
Gene	PON2
CLNDBN	PARAOXONASE 2 POLYMORPHISM
Reversed	1
HGVS	NC_000007.13:g.95034775G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007500.2,

[PMID 17601350] A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.

[PMID 18513389] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.

[PMID 19104460] Interaction between PON1 and population density in amyotrophic lateral sclerosis.

[PMID 19131662] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.

[PMID 19321847] A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS.

[PMID 19379518] Development of a fingerprinting panel using medically relevant polymorphisms.

[PMID 19546579] Evaluation of polymorphisms in paraoxonase 2 (PON2) gene and their association with cardiovascular-renal disease risk in Mexican Americans.

[PMID 19587357] A systematic meta-analysis of genetic association studies for diabetic retinopathy.

[PMID 20056567] Childhood brain tumors, residential insecticide exposure, and pesticide metabolism genes.

[PMID 20381198] Lack of association of PON polymorphisms with sporadic ALS in an Italian population.

[PMID 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

[PMID 21223581] Association analysis of PON2 genetic variants with serum paraoxonase activity and systemic lupus erythematosus.

[PMID 21231776] C-reactive protein levels are associated with paraoxonase polymorphism L55M in patients undergoing cardiac SPECT imaging.

[PMID 22877234] Polymorphisms in genes involved in oxidative stress response in patients with sudden sensorineural hearing loss and Meniere's disease in a Japanese population.

[PMID 22884547] Association analysis of PON polymorphisms in sporadic ALS in a Chinese population.

[PMID 23327886] Association between paraoxonase 2 gene polymorphisms and noise-induced hearing loss in the Chinese population.

[PMID 24100645] Association of paraoxonase gene polymorphisms with diabetic nephropathy and retinopathy

[PMID 24148949] [Association between single nucleotide polymorphisms of PON2 gene and susceptibility to occupational noise-induced deafness among Chinese Han population exposed to high noise levels]