chr7:95034775:G>C Detail (hg19) (PON2)

Information

Genome

Assembly Position
hg19 chr7:95,034,775-95,034,775
hg38 chr7:95,405,463-95,405,463 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001018161.1:c.896C>G NP_001018171.1:p.Ser299Cys
NM_000305.2:c.932C>G NP_000296.2:p.Ser311Cys
Ensemble ENST00000222572.8:c.932C>G ENST00000222572.8:p.Ser311Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.200
ToMMo:0.200
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.192

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 602447 OMIM
HGNC 9205 HGNC
Ensembl ENSG00000105854 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv30175577 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 1998-01-01 no assertion criteria provided PARAOXONASE 2 POLYMORPHISM germline Detail
Benign 2021-06-09 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 Diabetes We examined the relationship between variation at the C311S and A148G polymorphi... BeFree 17096118 Detail
0.002 diabetes mellitus We examined the relationship between variation at the C311S and A148G polymorphi... BeFree 17096118 Detail
0.017 coronary artery disease We analyzed two common polymorphisms in PON1 (i.e., M/L55 and R/Q 192 mutations)... BeFree 14996478 Detail
0.017 coronary artery disease Three polymorphisms in the PON1 (Leu55Met and Gln192Arg) and PON2 (Ser311Cys) ge... BeFree 12454802 Detail
0.011 Ischemic stroke We studied the significance of the Q192R and M55L polymorphisms of the PON1 gene... BeFree 17406108 Detail
0.007 Coronary heart disease Two cSNPs in PON1 (L55M and Q192R) and one in PON2 (S311C) have been implicated ... BeFree 14636952 Detail
0.006 Ischemic stroke We studied the significance of the Q192R and M55L polymorphisms of the PON1 gene... BeFree 17406108 Detail
0.003 Ischemic Cerebrovascular Accident We studied the significance of the Q192R and M55L polymorphisms of the PON1 gene... BeFree 17406108 Detail
0.049 myocardial infarction We evaluated three PON polymorphisms (PON1 Leu55Met and Gln192Arg; PON2 Ser311Cy... BeFree 14984433 Detail
<0.001 First myocardial infarction We evaluated the influence of 2 polymorphisms within PON1 (192 Gln/ Arg) and PON... BeFree 19939821 Detail
<0.001 Ischemic Cerebrovascular Accident We studied the significance of the Q192R and M55L polymorphisms of the PON1 gene... BeFree 17406108 Detail
0.208 coronary artery disease Three polymorphisms in the PON1 (Leu55Met and Gln192Arg) and PON2 (Ser311Cys) ge... BeFree 12454802 Detail
0.123 Hypercholesterolemia, Familial We have studied the contribution of PON-1 and PON-2 single nucleotide polymorphi... BeFree 16926679 Detail
0.123 Hypercholesterolemia, Familial We investigated paraoxonase 2 (PON 2) Ser311Cys, lipoprotein lipase (LPL) Asn291... BeFree 16776623 Detail
0.030 Diabetes Mellitus, Non-Insulin-Dependent Independent predictive roles of eotaxin Ala23Thr, paraoxonase 2 Ser311Cys and be... BeFree 20536507 Detail
0.127 Hypercholesterolemia, Familial We investigated paraoxonase 2 (PON 2) Ser311Cys, lipoprotein lipase (LPL) Asn291... BeFree 16776623 Detail
0.005 Diabetes The current project was designed to investigate the association between the poly... BeFree 11918623 Detail
0.017 coronary artery disease Association of cys 311 ser polymorphism of paraoxonase-2 gene with the risk of c... BeFree 18759523 Detail
0.002 diabetes mellitus The current project was designed to investigate the association between the poly... BeFree 11918623 Detail
<0.001 Ischemic Cerebrovascular Accident Association between paraoxonase 2 Ser311Cys polymorphism and ischemic stroke ris... BeFree 22183305 Detail
0.006 Ischemic stroke Association between paraoxonase 2 Ser311Cys polymorphism and ischemic stroke ris... BeFree 22183305 Detail
0.007 Coronary heart disease Association of cys 311 ser polymorphism of paraoxonase-2 gene with the risk of c... BeFree 18759523 Detail
<0.001 Heart Diseases Independent predictive roles of eotaxin Ala23Thr, paraoxonase 2 Ser311Cys and be... BeFree 20536507 Detail
0.138 diabetes mellitus The current project was designed to investigate the association between the poly... BeFree 11918623 Detail
0.001 Hypercholesterolemia, Familial We investigated paraoxonase 2 (PON 2) Ser311Cys, lipoprotein lipase (LPL) Asn291... BeFree 16776623 Detail
0.013 Cerebrovascular accident Paraoxonase 2 gene C311S polymorphism is associated with a risk of large vessel ... BeFree 17406108 Detail
<0.001 acute myocardial infarction We analyzed the PON2 C311S polymorphism in 442 elderly patients who had experien... BeFree 19540141 Detail
0.012 myocardial infarction Interaction between smoking and PON2 Ser311Cys polymorphism as a determinant of ... BeFree 14984433 Detail
0.025 Coronary Arteriosclerosis Association of cys 311 ser polymorphism of paraoxonase-2 gene with the risk of c... BeFree 18759523 Detail
0.001 Diabetes The current project was designed to investigate the association between the poly... BeFree 11918623 Detail
0.017 coronary artery disease demonstrated C/S311 polymorphism at PON2 was associated with the risk of CAD. BeFree 10729395 Detail
<0.001 diabetes mellitus In Cox regression model, after adjustment for baseline confounding variables inc... BeFree 20536507 Detail
0.002 diabetes mellitus In Cox regression model, after adjustment for baseline confounding variables inc... BeFree 20536507 Detail
<0.001 Diabetes In Cox regression model, after adjustment for baseline confounding variables inc... BeFree 20536507 Detail
0.002 Diabetes In Cox regression model, after adjustment for baseline confounding variables inc... BeFree 20536507 Detail
0.001 Diabetes In Cox regression model, after adjustment for baseline confounding variables inc... BeFree 20536507 Detail
0.002 diabetes mellitus In Cox regression model, after adjustment for baseline confounding variables inc... BeFree 20536507 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000305.3(PON2):c.932C>G (p.Ser311Cys) AND PARAOXONASE 2 POLYMORPHISM ClinVar Detail
NM_000305.3(PON2):c.932C>G (p.Ser311Cys) AND not provided ClinVar Detail
We examined the relationship between variation at the C311S and A148G polymorphisms (together with P... DisGeNET Detail
We examined the relationship between variation at the C311S and A148G polymorphisms (together with P... DisGeNET Detail
We analyzed two common polymorphisms in PON1 (i.e., M/L55 and R/Q 192 mutations) and PON2 (i.e., G/A... DisGeNET Detail
Three polymorphisms in the PON1 (Leu55Met and Gln192Arg) and PON2 (Ser311Cys) genes have been shown ... DisGeNET Detail
We studied the significance of the Q192R and M55L polymorphisms of the PON1 gene and the C311S polym... DisGeNET Detail
Two cSNPs in PON1 (L55M and Q192R) and one in PON2 (S311C) have been implicated as independent risk ... DisGeNET Detail
We studied the significance of the Q192R and M55L polymorphisms of the PON1 gene and the C311S polym... DisGeNET Detail
We studied the significance of the Q192R and M55L polymorphisms of the PON1 gene and the C311S polym... DisGeNET Detail
We evaluated three PON polymorphisms (PON1 Leu55Met and Gln192Arg; PON2 Ser311Cys) as possible risk ... DisGeNET Detail
We evaluated the influence of 2 polymorphisms within PON1 (192 Gln/ Arg) and PON2 (311 Ser/Cys) gene... DisGeNET Detail
We studied the significance of the Q192R and M55L polymorphisms of the PON1 gene and the C311S polym... DisGeNET Detail
Three polymorphisms in the PON1 (Leu55Met and Gln192Arg) and PON2 (Ser311Cys) genes have been shown ... DisGeNET Detail
We have studied the contribution of PON-1 and PON-2 single nucleotide polymorphisms (SNP; L55M, Q192... DisGeNET Detail
We investigated paraoxonase 2 (PON 2) Ser311Cys, lipoprotein lipase (LPL) Asn291Ser, plasminogen act... DisGeNET Detail
Independent predictive roles of eotaxin Ala23Thr, paraoxonase 2 Ser311Cys and beta-adrenergic recept... DisGeNET Detail
We investigated paraoxonase 2 (PON 2) Ser311Cys, lipoprotein lipase (LPL) Asn291Ser, plasminogen act... DisGeNET Detail
The current project was designed to investigate the association between the polymorphisms of two PON... DisGeNET Detail
Association of cys 311 ser polymorphism of paraoxonase-2 gene with the risk of coronary artery disea... DisGeNET Detail
The current project was designed to investigate the association between the polymorphisms of two PON... DisGeNET Detail
Association between paraoxonase 2 Ser311Cys polymorphism and ischemic stroke risk: a meta-analysis i... DisGeNET Detail
Association between paraoxonase 2 Ser311Cys polymorphism and ischemic stroke risk: a meta-analysis i... DisGeNET Detail
Association of cys 311 ser polymorphism of paraoxonase-2 gene with the risk of coronary artery disea... DisGeNET Detail
Independent predictive roles of eotaxin Ala23Thr, paraoxonase 2 Ser311Cys and beta-adrenergic recept... DisGeNET Detail
The current project was designed to investigate the association between the polymorphisms of two PON... DisGeNET Detail
We investigated paraoxonase 2 (PON 2) Ser311Cys, lipoprotein lipase (LPL) Asn291Ser, plasminogen act... DisGeNET Detail
Paraoxonase 2 gene C311S polymorphism is associated with a risk of large vessel disease stroke in a ... DisGeNET Detail
We analyzed the PON2 C311S polymorphism in 442 elderly patients who had experienced an AMI. DisGeNET Detail
Interaction between smoking and PON2 Ser311Cys polymorphism as a determinant of the risk of myocardi... DisGeNET Detail
Association of cys 311 ser polymorphism of paraoxonase-2 gene with the risk of coronary artery disea... DisGeNET Detail
The current project was designed to investigate the association between the polymorphisms of two PON... DisGeNET Detail
demonstrated C/S311 polymorphism at PON2 was associated with the risk of CAD. DisGeNET Detail
In Cox regression model, after adjustment for baseline confounding variables including age, sex, smo... DisGeNET Detail
In Cox regression model, after adjustment for baseline confounding variables including age, sex, smo... DisGeNET Detail
In Cox regression model, after adjustment for baseline confounding variables including age, sex, smo... DisGeNET Detail
In Cox regression model, after adjustment for baseline confounding variables including age, sex, smo... DisGeNET Detail
In Cox regression model, after adjustment for baseline confounding variables including age, sex, smo... DisGeNET Detail
In Cox regression model, after adjustment for baseline confounding variables including age, sex, smo... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs7493 dbSNP
Genome
hg19
Position
chr7:95,034,775-95,034,775
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
106.47
Standard deviation of sample read depth (HGVD)
48.31
Number of reference allele (HGVD)
1937
Number of alternative allele (HGVD)
483
Allele Frequency (HGVD)
0.19958677685950413
Gene Symbol (HGVD)
PON2
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs7493
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1996
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3345
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8638
East Asian Allele Counts (ExAC)
1660
East Asian Heterozygous Counts (ExAC)
1344
East Asian Homozygous Counts (ExAC)
158
East Asian Allele Frequency (ExAC)
0.19217411437832832
Chromosome Counts in All Race (ExAC)
121350
Allele Counts in All Race (ExAC)
32884
Heterozygous Counts in All Race (ExAC)
23372
Homozygous Counts in All Race (ExAC)
4756
Allele Frequency in All Race (ExAC)
0.27098475484136797
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