chr7:95411704:G>C Detail (hg38) (PON2)

Information

Genome

Assembly Position
hg19 chr7:95,041,016-95,041,016 View the variant detail on this assembly version.
hg38 chr7:95,411,704-95,411,704

HGVS

Type Transcript Protein
RefSeq NM_001018161.1:c.407C>G NP_001018171.1:p.Ala136Gly
NM_000305.2:c.443C>G NP_000296.2:p.Ala148Gly
Ensemble ENST00000222572.8:c.443C>G ENST00000222572.8:p.Ala148Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.199
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 tgv30175809 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 1997-10-01 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
0.002 diabetes mellitus PON1 A(-162)G and PON2 Ala148Gly genotypes, cystatin C, HbA1c, high density lipo... BeFree 19151417 Detail
0.001 Diabetes PON1 A(-162)G and PON2 Ala148Gly genotypes, cystatin C, HbA1c, high density lipo... BeFree 19151417 Detail
0.001 Diabetes We examined the relationship between variation at the C311S and A148G polymorphi... BeFree 17096118 Detail
0.001 Diabetes PON1 A(-162)G and PON2 Ala148Gly genotypes, cystatin C, HbA1c, high density lipo... BeFree 19151417 Detail
0.005 Diabetes PON1 A(-162)G and PON2 Ala148Gly genotypes, cystatin C, HbA1c, high density lipo... BeFree 19151417 Detail
0.138 diabetes mellitus PON1 A(-162)G and PON2 Ala148Gly genotypes, cystatin C, HbA1c, high density lipo... BeFree 19151417 Detail
0.001 diabetes mellitus PON1 A(-162)G and PON2 Ala148Gly genotypes, cystatin C, HbA1c, high density lipo... BeFree 19151417 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
Annotation

Annotations

DescrptionSourceLinks
NM_000305.3(PON2):c.443C>G (p.Ala148Gly) AND PARAOXONASE 2 POLYMORPHISM ClinVar Detail
NM_000305.3(PON2):c.443C>G (p.Ala148Gly) AND not provided ClinVar Detail
PON1 A(-162)G and PON2 Ala148Gly genotypes, cystatin C, HbA1c, high density lipoprotein cholesterol ... DisGeNET Detail
PON1 A(-162)G and PON2 Ala148Gly genotypes, cystatin C, HbA1c, high density lipoprotein cholesterol ... DisGeNET Detail
We examined the relationship between variation at the C311S and A148G polymorphisms (together with P... DisGeNET Detail
PON1 A(-162)G and PON2 Ala148Gly genotypes, cystatin C, HbA1c, high density lipoprotein cholesterol ... DisGeNET Detail
PON1 A(-162)G and PON2 Ala148Gly genotypes, cystatin C, HbA1c, high density lipoprotein cholesterol ... DisGeNET Detail
PON1 A(-162)G and PON2 Ala148Gly genotypes, cystatin C, HbA1c, high density lipoprotein cholesterol ... DisGeNET Detail
PON1 A(-162)G and PON2 Ala148Gly genotypes, cystatin C, HbA1c, high density lipoprotein cholesterol ... 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

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
rs12026 dbSNP
Genome
hg38
Position
chr7:95,411,704-95,411,704
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1206
Mean of sample read depth (HGVD)
68.92
Standard deviation of sample read depth (HGVD)
30.89
Number of reference allele (HGVD)
1931
Number of alternative allele (HGVD)
481
Allele Frequency (HGVD)
0.1994195688225539
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))
rs12026
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)
8622
East Asian Allele Counts (ExAC)
1655
East Asian Heterozygous Counts (ExAC)
1343
East Asian Homozygous Counts (ExAC)
156
East Asian Allele Frequency (ExAC)
0.19195082347483183
Chromosome Counts in All Race (ExAC)
120904
Allele Counts in All Race (ExAC)
32768
Heterozygous Counts in All Race (ExAC)
23340
Homozygous Counts in All Race (ExAC)
4714
Allele Frequency in All Race (ExAC)
0.27102494541123534
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