chr7:94953895:G>A Detail (hg19) (PON1, LOC129998829)

Information

Genome

Assembly Position
hg19 chr7:94,953,895-94,953,895
hg38 chr7:95,324,583-95,324,583 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.459
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
other 2014-08-18 no assertion criteria provided germline Detail
Benign 2021-06-19 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Microangiopathy, Diabetic In conclusion, all specific enzyme activities of PON1 were lower in patients wit... BeFree 11092501 Detail
0.071 Diabetes Mellitus, Non-Insulin-Dependent In conclusion, all specific enzyme activities of PON1 were lower in patients wit... BeFree 11092501 Detail
0.177 Cardiovascular Diseases Polymorphisms of the promoter region (-108C/T) and the coding region (192Q/R) of... BeFree 15008790 Detail
0.003 IgA glomerulonephritis The aim was to test whether polymorphisms in the PON1 coding region (Q192R and L... BeFree 17173245 Detail
0.005 childhood brain tumor [Brain tumors in children, especially primitive neuroectodermal tumors, are asso... GAD 16002382 Detail
0.009 polycystic ovary syndrome Because serum paraoxonase activity is influenced by the -108C/T polymorphism in ... BeFree 16880229 Detail
0.003 coronary stenosis [The haplotyes are related with the extent of stenosis.] GAD 18433845 Detail
0.208 coronary artery disease [In this study, we determined haplotypes of three SNPs within the PON1 gene prom... GAD 18433845 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000446.6(PON1):c.-108C>T AND Enzyme activity finding ClinVar Detail
NM_000446.6(PON1):c.-108C>T AND not provided ClinVar Detail
In conclusion, all specific enzyme activities of PON1 were lower in patients with type 2 diabetes in... DisGeNET Detail
In conclusion, all specific enzyme activities of PON1 were lower in patients with type 2 diabetes in... DisGeNET Detail
Polymorphisms of the promoter region (-108C/T) and the coding region (192Q/R) of the paraoxonase 1 g... DisGeNET Detail
The aim was to test whether polymorphisms in the PON1 coding region (Q192R and L55M) and its promote... DisGeNET Detail
[Brain tumors in children, especially primitive neuroectodermal tumors, are associated with the PON1... DisGeNET Detail
Because serum paraoxonase activity is influenced by the -108C/T polymorphism in the PON1 gene, we st... DisGeNET Detail
[The haplotyes are related with the extent of stenosis.] DisGeNET Detail
[In this study, we determined haplotypes of three SNPs within the PON1 gene promoter to elucidate as... DisGeNET Detail
Gene
-
dbSNP
rs705379 dbSNP
Genome
hg19
Position
chr7:94,953,895-94,953,895
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs705379
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4587
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7686
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16756
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