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rs7493

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs7493(C;G)
Make rs7493(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position95405463
GenePON2
is asnp
is mentioned by
dbSNPrs7493
ebirs7493
HLIrs7493
Exacrs7493
Varsomers7493
Maprs7493
PheGenIrs7493
hapmaprs7493
1000 genomesrs7493
hgdprs7493
ensemblrs7493
gopubmedrs7493
geneviewrs7493
scholarrs7493
googlers7493
pharmgkbrs7493
gwascentralrs7493
openSNPrs7493
23andMers7493
23andMe allrs7493
SNP Nexus

SNPshotrs7493
SNPdbers7493
MSV3drs7493
GWAS Ctlgrs7493
Merged fromRs6954345
GMAF0.2567
Max Magnitude0
? (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 19840942OA-icon.png]

OMIM602447
Desc
Variant0001
Relatedalso


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


[PMID 18513389OA-icon.png] 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 19131662OA-icon.png] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.


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


[PMID 19379518OA-icon.png] Development of a fingerprinting panel using medically relevant polymorphisms.


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


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


[PMID 20056567OA-icon.png] 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 20565774OA-icon.png] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.


[PMID 21223581OA-icon.png] 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.


GET Evidence
PON2-S311C
aa_change Ser311Cys
aa_change_short S311C
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.246421
summary



[PMID 22877234OA-icon.png] 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]