chr7:94937446:T>C Detail (hg19) (PON1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:94,937,446-94,937,446 |
| hg38 | chr7:95,308,134-95,308,134 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000446.5:c.575A>G | NP_000437.3:p.Gln192Arg |
| Ensemble | ENST00000222381.8:c.575A>G | ENST00000222381.8:p.Gln192Arg |
Summary
MGeND
| Clinical significance |
Benign
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.662 |
| ToMMo:0.664 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.661 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Benign
|
Centenarian |
germline
|
MGS000068
(TMGS000140) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
risk factor
|
2011-01-01 | no assertion criteria provided | Coronary artery disease, susceptibility to |
germline
|
Detail |
|
risk factor
|
2011-01-01 | no assertion criteria provided | Coronary artery spasm 2, susceptibility to |
germline
|
Detail |
association
|
2015-05-18 | no assertion criteria provided |
germline
|
Detail | |
|
Benign
|
2019-05-23 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Benign
|
2019-10-18 | criteria provided, single submitter | PON1-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.017 | coronary artery disease | We analyzed two common polymorphisms in PON1 (i.e., M/L55 and R/Q 192 mutations)... | BeFree | 14996478 | Detail |
| <0.001 | Chronic Kidney Diseases | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 19578796 | Detail |
| 0.001 | Chronic Kidney Diseases | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 19578796 | Detail |
| <0.001 | Chronic Kidney Diseases | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 19578796 | Detail |
| 0.138 | coronary artery vasospasm | Three polymorphisms, Paraoxonase 1 (PON1) Q192R (C/G), endothelial nitric oxide ... | BeFree | 21287574 | Detail |
| <0.001 | leukemia | The NQO1 rs1800566 (C609T), PON1 rs854560 (L55M), and PON1 rs662 (Q192R) polymor... | BeFree | 22976839 | Detail |
| 0.024 | leukemia | The NQO1 rs1800566 (C609T), PON1 rs854560 (L55M), and PON1 rs662 (Q192R) polymor... | BeFree | 22976839 | Detail |
| <0.001 | acute leukemia | NQO1 rs1800566 (C609T), PON1 rs662 (Q192R), and PON1 rs854560 (L55M) polymorphis... | BeFree | 22976839 | Detail |
| <0.001 | Leukemia, Myelocytic, Acute | The NQO1 rs1800566 (C609T), PON1 rs854560 (L55M), and PON1 rs662 (Q192R) polymor... | BeFree | 22976839 | Detail |
| <0.001 | Malignant neoplasm of stomach stage IV | NQO1 rs1800566 is an independent predictive factor of PFS for MGC patients treat... | BeFree | 25545243 | Detail |
| 0.005 | coronary artery disease | We evaluated associations of five candidate genetic polymorphisms (methylene tet... | BeFree | 21450592 | Detail |
| 0.234 | coronary artery disease | We evaluated associations of five candidate genetic polymorphisms (methylene tet... | BeFree | 21450592 | Detail |
| 0.265 | coronary artery disease | We evaluated associations of five candidate genetic polymorphisms (methylene tet... | BeFree | 21450592 | Detail |
| 0.208 | coronary artery disease | We evaluated associations of five candidate genetic polymorphisms (methylene tet... | BeFree | 21450592 | Detail |
| 0.009 | multiple sclerosis | Glyoxalase I A111E, paraoxonase 1 Q192R and L55M polymorphisms: susceptibility f... | BeFree | 17463067 | Detail |
| <0.001 | Cavernous Hemangioma of Brain | The present study aimed to investigate the possible association of GLO1 A111E, P... | BeFree | 26122242 | Detail |
| 0.005 | multiple sclerosis | Glyoxalase I A111E, paraoxonase 1 Q192R and L55M polymorphisms: susceptibility f... | BeFree | 17463067 | Detail |
| 0.121 | male infertility | The results indicated that the PON1 Arg192Glu (rs662) and SOD2 Val16Ala (rs4880)... | BeFree | 22206979 | Detail |
| 0.123 | male infertility | The results indicated that the PON1 Arg192Glu (rs662) and SOD2 Val16Ala (rs4880)... | BeFree | 22206979 | Detail |
| <0.001 | Angina, Unstable | This study aimed to evaluate the impact of PON1 Q192R in parallel to that of CYP... | BeFree | 23993903 | Detail |
| 0.003 | Angina, Unstable | This study aimed to evaluate the impact of PON1 Q192R in parallel to that of CYP... | BeFree | 23993903 | Detail |
| 0.145 | atherosclerosis | In this study, we enrolled 1746 type 2 diabetic subjects, determined 4 common ge... | BeFree | 19126404 | Detail |
| 0.017 | coronary artery disease | Three polymorphisms in the PON1 (Leu55Met and Gln192Arg) and PON2 (Ser311Cys) ge... | BeFree | 12454802 | Detail |
| 0.128 | Acute coronary syndrome | In conclusion, our study shows that PON1 Q192R genotype does not modify the effi... | BeFree | 22368149 | Detail |
| <0.001 | Microangiopathy, Diabetic | In conclusion, all specific enzyme activities of PON1 were lower in patients wit... | BeFree | 11092501 | Detail |
| 0.072 | Coronary Arteriosclerosis | The association of the PON1 Q192R polymorphism with coronary heart disease: find... | BeFree | 15214960 | Detail |
| <0.001 | major depressive disorder | Lowered plasma paraoxonase (PON)1 activity is a trait marker of major depression... | BeFree | 24679385 | Detail |
| 0.072 | Coronary Arteriosclerosis | Synergistic effects between Q192R polymorphism of paraoxonase 1 gene and some co... | BeFree | 17560461 | Detail |
| <0.001 | colorectal carcinoma | Association of paraoxonase-1(Q192R and L55M) gene polymorphisms and activity wit... | BeFree | 25684529 | Detail |
| 0.003 | Ischemic Cerebrovascular Accident | The salt stimulation property of serum paraoxonase (PON1) could be a valuable fa... | BeFree | 24433930 | Detail |
| 0.203 | atherosclerosis | Two common polymorphisms of the paraoxonase (PON1) gene, L55M and Q192R, were pr... | BeFree | 21302675 | Detail |
| 0.131 | rheumatoid arthritis | We found that PON-1-Q192R was associated with severity of RA [remission-to-low a... | BeFree | 25179377 | Detail |
| 0.125 | Hypercholesterolemia, Familial | In 187 patients with familial hypercholesterolemia, we studied the seven most co... | BeFree | 15642273 | Detail |
| 0.005 | Diabetes | In conclusion, we have shown that the Q192R polymorphism is a determinant of bot... | BeFree | 25477710 | Detail |
| 0.003 | Mental Depression | The association of the paraoxonase (PON1) Q192R polymorphism with depression in ... | BeFree | 17183021 | Detail |
| 0.121 | depressive disorder | The association of the paraoxonase (PON1) Q192R polymorphism with depression in ... | BeFree | 17183021 | Detail |
| 0.208 | coronary artery disease | Synergistic effects between Q192R polymorphism of paraoxonase 1 gene and some co... | BeFree | 17560461 | Detail |
| 0.071 | Diabetes Mellitus, Non-Insulin-Dependent | In conclusion, all specific enzyme activities of PON1 were lower in patients wit... | BeFree | 11092501 | Detail |
| 0.011 | Ischemic stroke | We studied the significance of the Q192R and M55L polymorphisms of the PON1 gene... | BeFree | 17406108 | Detail |
| 0.177 | Cardiovascular Diseases | To investigate the potential interaction between folate intake and the paraoxona... | BeFree | 21982484 | Detail |
| 0.048 | Cerebrovascular accident | Evaluation of the paraoxonases as candidate genes for stroke: Gln192Arg polymorp... | BeFree | 16239632 | Detail |
| 0.012 | obesity | The SNP rs662 in the paraoxonase 1 gene (PON1 Q192R) has been associated with ob... | BeFree | 25500007 | Detail |
| 0.131 | rheumatoid arthritis | Lack of association between paraoxonase-1 Q192R polymorphism and rheumatoid arth... | BeFree | 20198589 | Detail |
| 0.005 | schizophrenia | Our results suggest that the Gln192Arg polymorphism of the PON1 gene may not be ... | BeFree | 11880198 | Detail |
| 0.193 | Coronary heart disease | We tested the clinical relevance of the PON1 Q192R genotype in a population of i... | BeFree | 21170047 | Detail |
| 0.049 | myocardial infarction | Paraoxonase 1 gene Q192R polymorphism affects stroke and myocardial infarction r... | BeFree | 16472799 | Detail |
| 0.009 | multiple sclerosis | Lack of association between paraoxonase 1 Q192R polymorphism and multiple sclero... | BeFree | 21545792 | Detail |
| 0.007 | Coronary heart disease | Two cSNPs in PON1 (L55M and Q192R) and one in PON2 (S311C) have been implicated ... | BeFree | 14636952 | Detail |
| 0.208 | coronary artery disease | A preliminary study of human paraoxonase and PON 1 L/M55-PON 1 Q/R 192 polymorph... | BeFree | 19226538 | Detail |
| 0.006 | Ischemic stroke | We studied the significance of the Q192R and M55L polymorphisms of the PON1 gene... | BeFree | 17406108 | Detail |
| 0.203 | atherosclerosis | To investigate the potential interaction between folate intake and the paraoxona... | BeFree | 21982484 | Detail |
| <0.001 | Fibrillation | Effect of PON1 Q192R genetic polymorphism on clopidogrel efficacy and cardiovasc... | BeFree | 22368149 | Detail |
| <0.001 | B-Cell Lymphomas | Despite the fact that further confirmation is needed, this study shows that the ... | BeFree | 23651475 | Detail |
| 0.001 | Mood Disorders | The study aimed to examine the relation between TRAP levels and PON1 activity, P... | BeFree | 25153516 | Detail |
| 0.003 | Ischemic Cerebrovascular Accident | We studied the significance of the Q192R and M55L polymorphisms of the PON1 gene... | BeFree | 17406108 | Detail |
| 0.048 | Cerebrovascular accident | Lack of association between the paraoxonase 1 Q/R192 single nucleotide polymorph... | BeFree | 19902814 | Detail |
| 0.193 | Coronary heart disease | A preliminary study of human paraoxonase and PON 1 L/M55-PON 1 Q/R 192 polymorph... | BeFree | 19226538 | Detail |
| <0.001 | Embryonal Neoplasm | PON1 Q192R polymorphism (rs662) is associated with childhood embryonal tumors. | BeFree | 24972570 | Detail |
| 0.003 | arteriosclerosis | In this study, we enrolled 1746 type 2 diabetic subjects, determined 4 common ge... | BeFree | 19126404 | Detail |
| 0.027 | arteriosclerosis | Two common polymorphisms of the paraoxonase (PON1) gene, L55M and Q192R, were pr... | BeFree | 21302675 | Detail |
| <0.001 | Angina, Unstable | Effect of PON1 Q192R genetic polymorphism on clopidogrel efficacy and cardiovasc... | BeFree | 22368149 | Detail |
| <0.001 | bipolar disorder | Aims and methods This study aimed to delineate the associations of the MetS with... | BeFree | 25037113 | Detail |
| 0.013 | age related macular degeneration | Association of paraoxonase 1 L55M and Q192R single-nucleotide polymorphisms with... | BeFree | 23538572 | Detail |
| 0.193 | Coronary heart disease | Synergistic effects between Q192R polymorphism of paraoxonase 1 gene and some co... | BeFree | 17560461 | Detail |
| 0.203 | atherosclerosis | The Q192R (rs662; A/G) polymorphism, which results in the glutamine to arginine ... | BeFree | 23625196 | Detail |
| 0.048 | Cerebrovascular accident | Paraoxonase 1 gene Q192R polymorphism affects stroke and myocardial infarction r... | BeFree | 16472799 | Detail |
| 0.007 | atherosclerosis | In this study, we enrolled 1746 type 2 diabetic subjects, determined 4 common ge... | BeFree | 19126404 | Detail |
| 0.072 | Coronary Arteriosclerosis | Association between PON1 rs662 polymorphism and coronary artery disease. | BeFree | 24918121 | Detail |
| 0.120 | autistic disorder | As predicted, Caucasian-American and not Italian families display a significant ... | BeFree | 16027737 | Detail |
| 0.011 | Ischemic stroke | Paraoxonase/arylesterase ratio, PON1 192Q/R polymorphism and PON1 status are ass... | BeFree | 17920578 | Detail |
| 0.049 | myocardial infarction | The paraoxonase (PON1) polymorphisms, Leu55Met and Gln192Arg, modulate intima-me... | BeFree | 20639675 | Detail |
| 0.208 | coronary artery disease | The Q192R polymorphism of the paraoxonase 1 gene is a risk factor for coronary a... | BeFree | 23625196 | Detail |
| 0.049 | myocardial infarction | We evaluated three PON polymorphisms (PON1 Leu55Met and Gln192Arg; PON2 Ser311Cy... | BeFree | 14984433 | Detail |
| 0.072 | Coronary Arteriosclerosis | The Q192R polymorphism of the paraoxonase 1 gene is a risk factor for coronary a... | BeFree | 23625196 | Detail |
| <0.001 | First myocardial infarction | We evaluated the influence of 2 polymorphisms within PON1 (192 Gln/ Arg) and PON... | BeFree | 19939821 | Detail |
| 0.193 | Coronary heart disease | The association of the PON1 Q192R polymorphism with coronary heart disease: find... | BeFree | 15214960 | Detail |
| <0.001 | Depressive Symptoms | These findings suggest that the association of PON1 Q192R with symptoms of depre... | BeFree | 17183021 | Detail |
| 0.027 | arteriosclerosis | Serum PON-1 activity but not Q192R polymorphism is related to the extent of athe... | BeFree | 22188760 | Detail |
| 0.005 | Diabetes | Are PON1 Q/R 192 and M/L 55 polymorphisms risk factors for diabetes complication... | BeFree | 21223956 | Detail |
| <0.001 | multiple sclerosis | To investigate the possible association between the PON1 genotype and allelic va... | BeFree | 19826962 | Detail |
| 0.006 | arteriosclerosis | In this study, we enrolled 1746 type 2 diabetic subjects, determined 4 common ge... | BeFree | 19126404 | Detail |
| <0.001 | Unipolar Depression | Lowered plasma paraoxonase (PON)1 activity is a trait marker of major depression... | BeFree | 24679385 | Detail |
| <0.001 | nephroblastoma | The presence of at least one variant PON1 rs662 R allele increased the risk of d... | BeFree | 24972570 | Detail |
| 0.003 | breast carcinoma | Association of L55M and Q192R polymorphisms in paraoxonase 1 (PON1) gene with br... | BeFree | 21229382 | Detail |
| <0.001 | Ischemic Cerebrovascular Accident | We studied the significance of the Q192R and M55L polymorphisms of the PON1 gene... | BeFree | 17406108 | Detail |
| <0.001 | Primary hypercholesterolemia | This study was performed to evaluate the contribution of the PON1 promoter (-107... | BeFree | 15087255 | Detail |
| 0.022 | Hypertensive disease | In this study we assessed the associations of the PON1 Q192R polymorphism with s... | BeFree | 16629699 | Detail |
| 0.208 | coronary artery disease | We tested the clinical relevance of the PON1 Q192R genotype in a population of i... | BeFree | 21170047 | Detail |
| 0.071 | Diabetes Mellitus, Non-Insulin-Dependent | We investigated whether the human serum paraoxonase (PON1) Q/R 192 and M/L 55 po... | BeFree | 21223956 | Detail |
| 0.177 | Cardiovascular Diseases | Polymorphisms of the promoter region (-108C/T) and the coding region (192Q/R) of... | BeFree | 15008790 | Detail |
| 0.072 | Coronary Arteriosclerosis | PON1 L55M polymorphism is not a predictor of coronary atherosclerosis either alo... | BeFree | 11851721 | Detail |
| 0.072 | Coronary Arteriosclerosis | We tested the clinical relevance of the PON1 Q192R genotype in a population of i... | BeFree | 21170047 | Detail |
| <0.001 | bipolar disorder | Lowered plasma paraoxonase (PON)1 activity is a trait marker of major depression... | BeFree | 24679385 | Detail |
| <0.001 | Uterine Fibroids | The effects of PON1 gene Q192R variant on the development of uterine leiomyoma i... | BeFree | 25792652 | Detail |
| 0.193 | Coronary heart disease | Paraoxonase-1 (PON1) activity, but not PON1(Q192R) phenotype, is a predictor of ... | BeFree | 17032132 | Detail |
| 0.010 | Myocardial Ischemia | Using self-reported data on ischemic heart disease to evaluate the impact of the... | BeFree | 15241482 | Detail |
| 0.050 | coronary artery disease | The aim of the study is to ascertain the prevalence of PON1 Q192R polymorphism i... | BeFree | 23171143 | Detail |
| 0.005 | Carotid Atherosclerosis | In conclusion, our data provided no evidence of a significant association betwee... | BeFree | 15087255 | Detail |
| 0.010 | Malignant neoplasm of breast | Association of L55M and Q192R polymorphisms in paraoxonase 1 (PON1) gene with br... | BeFree | 21229382 | Detail |
| 0.027 | arteriosclerosis | In this study, we enrolled 1746 type 2 diabetic subjects, determined 4 common ge... | BeFree | 19126404 | Detail |
| 0.003 | IgA glomerulonephritis | The aim was to test whether polymorphisms in the PON1 coding region (Q192R and L... | BeFree | 17173245 | Detail |
| 0.208 | coronary artery disease | PON1 Q192R can be used as the DNA marker test to evaluate the risk of CAD in pos... | BeFree | 23171143 | Detail |
| 0.049 | myocardial infarction | In the present study, we examined a possible association between the PON1 Q192R ... | BeFree | 20833162 | Detail |
| 0.193 | Coronary heart disease | The Q192R polymorphism of the paraoxonase 1 gene is a risk factor for coronary a... | BeFree | 23625196 | Detail |
| 0.203 | atherosclerosis | Serum PON-1 activity but not Q192R polymorphism is related to the extent of athe... | BeFree | 22188760 | Detail |
| 0.041 | Alzheimer's disease | Gln192Arg polymorphism in paraoxonase 1 gene is associated with Alzheimer diseas... | BeFree | 16863614 | Detail |
| 0.138 | diabetes mellitus | Are PON1 Q/R 192 and M/L 55 polymorphisms risk factors for diabetes complication... | BeFree | 21223956 | Detail |
| 0.003 | Ischemic Cerebrovascular Accident | Paraoxonase/arylesterase ratio, PON1 192Q/R polymorphism and PON1 status are ass... | BeFree | 17920578 | Detail |
| 0.138 | diabetes mellitus | In conclusion, we have shown that the Q192R polymorphism is a determinant of bot... | BeFree | 25477710 | Detail |
| 0.440 | Alzheimer's disease | The interaction between PON1 genes (rs662 and rs85460) and ApoE genes showed syn... | BeFree | 24965284 | Detail |
| <0.001 | Fabry disease | The objective of the current study was to investigate the PON1 polymorphisms Gln... | BeFree | 22796398 | Detail |
| 0.203 | atherosclerosis | In this study, we enrolled 1746 type 2 diabetic subjects, determined 4 common ge... | BeFree | 19126404 | Detail |
| 0.071 | Diabetes Mellitus, Non-Insulin-Dependent | Paraoxonase 1 192 Gln/Arg gene polymorphism and cerebrovascular disease: interac... | BeFree | 11409295 | Detail |
| 0.208 | coronary artery disease | Association between PON1 rs662 polymorphism and coronary artery disease. | BeFree | 24918121 | Detail |
| <0.001 | bipolar I disorder | Association between bipolar I disorder and the L55M and Q192R polymorphisms of t... | BeFree | 21783258 | Detail |
| 0.012 | obesity | Paraoxonase (PON)1 Q192R functional genotypes and PON1 Q192R genotype by smoking... | BeFree | 25037113 | Detail |
| <0.001 | gestational diabetes | Relationship between the paraoxonase 1 gene glutamine 192 to arginine polymorphi... | BeFree | 25036896 | Detail |
| 0.071 | Diabetes Mellitus, Non-Insulin-Dependent | The difference in allele frequency for the PON(1) Q/R 192 gene polymorphism may ... | BeFree | 12442067 | Detail |
| 0.071 | Dementia, Vascular | The interaction between PON1 genes (rs662 and rs85460) and ApoE genes showed syn... | BeFree | 24965284 | Detail |
| 0.072 | Coronary Arteriosclerosis | Paraoxonase-1 (PON1) activity, but not PON1(Q192R) phenotype, is a predictor of ... | BeFree | 17032132 | Detail |
| 0.001 | Carcinogenesis | Our results suggest that the protective effect of PON1 rs662 SNP against lung ca... | BeFree | 25741997 | Detail |
| 0.123 | Brain Neoplasms | Seventy one consecutive patients with brain tumors (43 with astrocytoma grade II... | BeFree | 20723250 | Detail |
| 0.001 | Mood Disorders | Aims and methods This study aimed to delineate the associations of the MetS with... | BeFree | 25037113 | Detail |
| 0.041 | Alzheimer's disease | Synergistic epistasis of paraoxonase 1 (rs662 and rs85460) and apolipoprotein E4... | BeFree | 24965284 | Detail |
| 0.013 | age related macular degeneration | Protective effect of paraoxonase 1 gene variant Gln192Arg in age-related macular... | BeFree | 20042177 | Detail |
| <0.001 | nicotine dependence | Smoking and especially severe nicotine dependence are significantly associated w... | BeFree | 25037113 | Detail |
| 0.123 | coronary artery vasospasm | First survey of the three gene polymorphisms (PON1 Q192R, eNOS E298D and eNOS C-... | BeFree | 21287574 | Detail |
| 0.123 | spina bifida | [Paraoxonase 1 polymorphisms and haplotypes and the risk for having offspring af... | GAD | 21031563 | Detail |
| 0.049 | myocardial infarction | The association between systemic PON1 activity measures and a functional polymor... | BeFree | 18349088 | Detail |
| 0.027 | arteriosclerosis | To investigate the potential interaction between folate intake and the paraoxona... | BeFree | 21982484 | Detail |
| 0.208 | coronary artery disease | Three polymorphisms in the PON1 (Leu55Met and Gln192Arg) and PON2 (Ser311Cys) ge... | BeFree | 12454802 | Detail |
| 0.003 | colorectal cancer | Association of paraoxonase-1(Q192R and L55M) gene polymorphisms and activity wit... | BeFree | 25684529 | Detail |
| 0.127 | Metabolic syndrome X | According to our results, PON1 Q192R polymorphism is a risk marker for insulin r... | BeFree | 25500007 | Detail |
| 0.120 | Coronary artery disease, susceptibility to | NA | CLINVAR | Detail | |
| 0.208 | coronary artery disease | Two polymorphisms at the PON1 (M/L55 and Q/R192) have been shown to be associate... | BeFree | 10729395 | Detail |
| 0.127 | Metabolic syndrome X | Paraoxonase (PON)1 Q192R functional genotypes and PON1 Q192R genotype by smoking... | BeFree | 25037113 | Detail |
| 0.011 | Ischemic stroke | The salt stimulation property of serum paraoxonase (PON1) could be a valuable fa... | BeFree | 24433930 | Detail |
| 0.150 | amyotrophic lateral sclerosis | Paraoxonase 1 Q192R and L55M polymorphisms and susceptibility to amyotrophic lat... | BeFree | 25301263 | Detail |
| 0.072 | Coronary Arteriosclerosis | A preliminary study of human paraoxonase and PON 1 L/M55-PON 1 Q/R 192 polymorph... | BeFree | 19226538 | Detail |
| 0.048 | Cerebrovascular accident | The presence of the R allele of the Q192R PON1 polymorphism seems to potentiate ... | BeFree | 24225313 | Detail |
| 0.003 | coronary stenosis | Matrix metalloproteinase-9 and paraoxonase 1 Q/R192 gene polymorphisms and the r... | BeFree | 20872564 | Detail |
| 0.193 | Coronary heart disease | Association between PON1 rs662 polymorphism and coronary artery disease. | BeFree | 24918121 | Detail |
| 0.013 | age related macular degeneration | The M55L and Q192R SNPs of the PON1 gene do not appear to be associated with lat... | BeFree | 15488805 | Detail |
| <0.001 | rheumatoid arthritis | Association between butyrylcholinesterase activity and phenotypes, paraoxonase19... | BeFree | 25179377 | Detail |
| 0.120 | Enzyme activity finding | NA | CLINVAR | Detail | |
| 0.123 | Hypercholesterolemia, Familial | We have studied the contribution of PON-1 and PON-2 single nucleotide polymorphi... | BeFree | 16926679 | Detail |
| 0.012 | obesity | Q192R polymorphism of the paraoxonase-1 gene as a risk factor for obesity in Por... | BeFree | 21078685 | Detail |
| 0.177 | Cardiovascular Diseases | Arylesterase activity and antioxidant status depend on PON1-Q192R and PON1-L55M ... | BeFree | 17585031 | Detail |
| 0.027 | arteriosclerosis | The Q192R (rs662; A/G) polymorphism, which results in the glutamine to arginine ... | BeFree | 23625196 | Detail |
| 0.006 | Dementia, Vascular | Synergistic epistasis of paraoxonase 1 (rs662 and rs85460) and apolipoprotein E4... | BeFree | 24965284 | Detail |
| <0.001 | Presenile dementia | Paraoxonase 1 (PON1) gene-108C>T and p.Q192R polymorphisms and arylesterase a... | BeFree | 23821382 | Detail |
| 0.028 | atherosclerosis | In this study, we enrolled 1746 type 2 diabetic subjects, determined 4 common ge... | BeFree | 19126404 | Detail |
| 0.006 | dementia | Paraoxonase 1 (PON1) gene-108C>T and p.Q192R polymorphisms and arylesterase a... | BeFree | 23821382 | Detail |
| 0.208 | coronary artery disease | Paraoxonase-1 (PON1) activity, but not PON1(Q192R) phenotype, is a predictor of ... | BeFree | 17032132 | Detail |
| 0.003 | asthma | We found for the first time significant associations of CYP1B1 V432L (P=0.045), ... | BeFree | 19575027 | Detail |
| 0.003 | asthma | We found for the first time significant associations of CYP1B1 V432L (P=0.045), ... | BeFree | 19575027 | Detail |
| 0.003 | asthma | We found for the first time significant associations of CYP1B1 V432L (P=0.045), ... | BeFree | 19575027 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000446.7(PON1):c.575A>G (p.Gln192Arg) AND Coronary artery disease, susceptibility to | ClinVar | Detail |
| NM_000446.7(PON1):c.575A>G (p.Gln192Arg) AND Coronary artery spasm 2, susceptibility to | ClinVar | Detail |
| NM_000446.7(PON1):c.575A>G (p.Gln192Arg) AND Enzyme activity finding | ClinVar | Detail |
| NM_000446.7(PON1):c.575A>G (p.Gln192Arg) AND not provided | ClinVar | Detail |
| NM_000446.7(PON1):c.575A>G (p.Gln192Arg) AND PON1-related disorder | ClinVar | 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 |
| The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, and ... | DisGeNET | Detail |
| The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, and ... | DisGeNET | Detail |
| The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, and ... | DisGeNET | Detail |
| Three polymorphisms, Paraoxonase 1 (PON1) Q192R (C/G), endothelial nitric oxide synthase (eNOS) E298... | DisGeNET | Detail |
| The NQO1 rs1800566 (C609T), PON1 rs854560 (L55M), and PON1 rs662 (Q192R) polymorphisms modified risk... | DisGeNET | Detail |
| The NQO1 rs1800566 (C609T), PON1 rs854560 (L55M), and PON1 rs662 (Q192R) polymorphisms modified risk... | DisGeNET | Detail |
| NQO1 rs1800566 (C609T), PON1 rs662 (Q192R), and PON1 rs854560 (L55M) polymorphisms segregate the ris... | DisGeNET | Detail |
| The NQO1 rs1800566 (C609T), PON1 rs854560 (L55M), and PON1 rs662 (Q192R) polymorphisms modified risk... | DisGeNET | Detail |
| NQO1 rs1800566 is an independent predictive factor of PFS for MGC patients treated with EOF chemothe... | DisGeNET | Detail |
| We evaluated associations of five candidate genetic polymorphisms (methylene tetrahydrofolate reduct... | DisGeNET | Detail |
| We evaluated associations of five candidate genetic polymorphisms (methylene tetrahydrofolate reduct... | DisGeNET | Detail |
| We evaluated associations of five candidate genetic polymorphisms (methylene tetrahydrofolate reduct... | DisGeNET | Detail |
| We evaluated associations of five candidate genetic polymorphisms (methylene tetrahydrofolate reduct... | DisGeNET | Detail |
| Glyoxalase I A111E, paraoxonase 1 Q192R and L55M polymorphisms: susceptibility factors of multiple s... | DisGeNET | Detail |
| The present study aimed to investigate the possible association of GLO1 A111E, PON1 Q192R and L55M p... | DisGeNET | Detail |
| Glyoxalase I A111E, paraoxonase 1 Q192R and L55M polymorphisms: susceptibility factors of multiple s... | DisGeNET | Detail |
| The results indicated that the PON1 Arg192Glu (rs662) and SOD2 Val16Ala (rs4880) variant genotypes w... | DisGeNET | Detail |
| The results indicated that the PON1 Arg192Glu (rs662) and SOD2 Val16Ala (rs4880) variant genotypes w... | DisGeNET | Detail |
| This study aimed to evaluate the impact of PON1 Q192R in parallel to that of CYP2C19*2 (rs4244285) o... | DisGeNET | Detail |
| This study aimed to evaluate the impact of PON1 Q192R in parallel to that of CYP2C19*2 (rs4244285) o... | DisGeNET | Detail |
| In this study, we enrolled 1746 type 2 diabetic subjects, determined 4 common genetic variants relat... | DisGeNET | Detail |
| Three polymorphisms in the PON1 (Leu55Met and Gln192Arg) and PON2 (Ser311Cys) genes have been shown ... | DisGeNET | Detail |
| In conclusion, our study shows that PON1 Q192R genotype does not modify the efficacy and safety of c... | DisGeNET | Detail |
| In conclusion, all specific enzyme activities of PON1 were lower in patients with type 2 diabetes in... | DisGeNET | Detail |
| The association of the PON1 Q192R polymorphism with coronary heart disease: findings from the Britis... | DisGeNET | Detail |
| Lowered plasma paraoxonase (PON)1 activity is a trait marker of major depression and PON1 Q192R gene... | DisGeNET | Detail |
| Synergistic effects between Q192R polymorphism of paraoxonase 1 gene and some conventional risk fact... | DisGeNET | Detail |
| Association of paraoxonase-1(Q192R and L55M) gene polymorphisms and activity with colorectal cancer ... | DisGeNET | Detail |
| The salt stimulation property of serum paraoxonase (PON1) could be a valuable factor in evaluating t... | DisGeNET | Detail |
| Two common polymorphisms of the paraoxonase (PON1) gene, L55M and Q192R, were proven to mitigate ath... | DisGeNET | Detail |
| We found that PON-1-Q192R was associated with severity of RA [remission-to-low and moderate-to-high ... | DisGeNET | Detail |
| In 187 patients with familial hypercholesterolemia, we studied the seven most common single nucleoti... | DisGeNET | Detail |
| In conclusion, we have shown that the Q192R polymorphism is a determinant of both PON1 concentration... | DisGeNET | Detail |
| The association of the paraoxonase (PON1) Q192R polymorphism with depression in older women: finding... | DisGeNET | Detail |
| The association of the paraoxonase (PON1) Q192R polymorphism with depression in older women: finding... | DisGeNET | Detail |
| Synergistic effects between Q192R polymorphism of paraoxonase 1 gene and some conventional risk fact... | DisGeNET | Detail |
| In conclusion, all specific enzyme activities of PON1 were lower in patients with type 2 diabetes in... | DisGeNET | Detail |
| We studied the significance of the Q192R and M55L polymorphisms of the PON1 gene and the C311S polym... | DisGeNET | Detail |
| To investigate the potential interaction between folate intake and the paraoxonase 1 (PON1) Q192R po... | DisGeNET | Detail |
| Evaluation of the paraoxonases as candidate genes for stroke: Gln192Arg polymorphism in the paraoxon... | DisGeNET | Detail |
| The SNP rs662 in the paraoxonase 1 gene (PON1 Q192R) has been associated with obesity, dyslipidemia ... | DisGeNET | Detail |
| Lack of association between paraoxonase-1 Q192R polymorphism and rheumatoid arthritis in southeast I... | DisGeNET | Detail |
| Our results suggest that the Gln192Arg polymorphism of the PON1 gene may not be involved in the susc... | DisGeNET | Detail |
| We tested the clinical relevance of the PON1 Q192R genotype in a population of individuals with coro... | DisGeNET | Detail |
| Paraoxonase 1 gene Q192R polymorphism affects stroke and myocardial infarction risk. | DisGeNET | Detail |
| Lack of association between paraoxonase 1 Q192R polymorphism and multiple sclerosis in relapse phase... | DisGeNET | Detail |
| Two cSNPs in PON1 (L55M and Q192R) and one in PON2 (S311C) have been implicated as independent risk ... | DisGeNET | Detail |
| A preliminary study of human paraoxonase and PON 1 L/M55-PON 1 Q/R 192 polymorphisms in Turkish pati... | DisGeNET | Detail |
| We studied the significance of the Q192R and M55L polymorphisms of the PON1 gene and the C311S polym... | DisGeNET | Detail |
| To investigate the potential interaction between folate intake and the paraoxonase 1 (PON1) Q192R po... | DisGeNET | Detail |
| Effect of PON1 Q192R genetic polymorphism on clopidogrel efficacy and cardiovascular events in the C... | DisGeNET | Detail |
| Despite the fact that further confirmation is needed, this study shows that the PON1 GG genotype in ... | DisGeNET | Detail |
| The study aimed to examine the relation between TRAP levels and PON1 activity, PON1 Q192R functional... | DisGeNET | Detail |
| We studied the significance of the Q192R and M55L polymorphisms of the PON1 gene and the C311S polym... | DisGeNET | Detail |
| Lack of association between the paraoxonase 1 Q/R192 single nucleotide polymorphism and stroke in a ... | DisGeNET | Detail |
| A preliminary study of human paraoxonase and PON 1 L/M55-PON 1 Q/R 192 polymorphisms in Turkish pati... | DisGeNET | Detail |
| PON1 Q192R polymorphism (rs662) is associated with childhood embryonal tumors. | DisGeNET | Detail |
| In this study, we enrolled 1746 type 2 diabetic subjects, determined 4 common genetic variants relat... | DisGeNET | Detail |
| Two common polymorphisms of the paraoxonase (PON1) gene, L55M and Q192R, were proven to mitigate ath... | DisGeNET | Detail |
| Effect of PON1 Q192R genetic polymorphism on clopidogrel efficacy and cardiovascular events in the C... | DisGeNET | Detail |
| Aims and methods This study aimed to delineate the associations of the MetS with plasma PON1 activit... | DisGeNET | Detail |
| Association of paraoxonase 1 L55M and Q192R single-nucleotide polymorphisms with age-related macular... | DisGeNET | Detail |
| Synergistic effects between Q192R polymorphism of paraoxonase 1 gene and some conventional risk fact... | DisGeNET | Detail |
| The Q192R (rs662; A/G) polymorphism, which results in the glutamine to arginine substitution at posi... | DisGeNET | Detail |
| Paraoxonase 1 gene Q192R polymorphism affects stroke and myocardial infarction risk. | DisGeNET | Detail |
| In this study, we enrolled 1746 type 2 diabetic subjects, determined 4 common genetic variants relat... | DisGeNET | Detail |
| Association between PON1 rs662 polymorphism and coronary artery disease. | DisGeNET | Detail |
| As predicted, Caucasian-American and not Italian families display a significant association between ... | DisGeNET | Detail |
| Paraoxonase/arylesterase ratio, PON1 192Q/R polymorphism and PON1 status are associated with increas... | DisGeNET | Detail |
| The paraoxonase (PON1) polymorphisms, Leu55Met and Gln192Arg, modulate intima-medial artery thickeni... | DisGeNET | Detail |
| The Q192R polymorphism of the paraoxonase 1 gene is a risk factor for coronary artery disease in Sau... | DisGeNET | Detail |
| We evaluated three PON polymorphisms (PON1 Leu55Met and Gln192Arg; PON2 Ser311Cys) as possible risk ... | DisGeNET | Detail |
| The Q192R polymorphism of the paraoxonase 1 gene is a risk factor for coronary artery disease in Sau... | DisGeNET | Detail |
| We evaluated the influence of 2 polymorphisms within PON1 (192 Gln/ Arg) and PON2 (311 Ser/Cys) gene... | DisGeNET | Detail |
| The association of the PON1 Q192R polymorphism with coronary heart disease: findings from the Britis... | DisGeNET | Detail |
| These findings suggest that the association of PON1 Q192R with symptoms of depression in occupationa... | DisGeNET | Detail |
| Serum PON-1 activity but not Q192R polymorphism is related to the extent of atherosclerosis. | DisGeNET | Detail |
| Are PON1 Q/R 192 and M/L 55 polymorphisms risk factors for diabetes complications in Turkish populat... | DisGeNET | Detail |
| To investigate the possible association between the PON1 genotype and allelic variants of the polymo... | DisGeNET | Detail |
| In this study, we enrolled 1746 type 2 diabetic subjects, determined 4 common genetic variants relat... | DisGeNET | Detail |
| Lowered plasma paraoxonase (PON)1 activity is a trait marker of major depression and PON1 Q192R gene... | DisGeNET | Detail |
| The presence of at least one variant PON1 rs662 R allele increased the risk of developing Wilms´ Tum... | DisGeNET | Detail |
| Association of L55M and Q192R polymorphisms in paraoxonase 1 (PON1) gene with breast cancer risk and... | DisGeNET | Detail |
| We studied the significance of the Q192R and M55L polymorphisms of the PON1 gene and the C311S polym... | DisGeNET | Detail |
| This study was performed to evaluate the contribution of the PON1 promoter (-107)T>C and the codi... | DisGeNET | Detail |
| In this study we assessed the associations of the PON1 Q192R polymorphism with self-report of having... | DisGeNET | Detail |
| We tested the clinical relevance of the PON1 Q192R genotype in a population of individuals with coro... | DisGeNET | Detail |
| We investigated whether the human serum paraoxonase (PON1) Q/R 192 and M/L 55 polymorphisms are asso... | DisGeNET | Detail |
| Polymorphisms of the promoter region (-108C/T) and the coding region (192Q/R) of the paraoxonase 1 g... | DisGeNET | Detail |
| PON1 L55M polymorphism is not a predictor of coronary atherosclerosis either alone or in combination... | DisGeNET | Detail |
| We tested the clinical relevance of the PON1 Q192R genotype in a population of individuals with coro... | DisGeNET | Detail |
| Lowered plasma paraoxonase (PON)1 activity is a trait marker of major depression and PON1 Q192R gene... | DisGeNET | Detail |
| The effects of PON1 gene Q192R variant on the development of uterine leiomyoma in Turkish patients. | DisGeNET | Detail |
| Paraoxonase-1 (PON1) activity, but not PON1(Q192R) phenotype, is a predictor of coronary artery dise... | DisGeNET | Detail |
| Using self-reported data on ischemic heart disease to evaluate the impact of the PON 192Q/R polymorp... | DisGeNET | Detail |
| The aim of the study is to ascertain the prevalence of PON1 Q192R polymorphism in male and female su... | DisGeNET | Detail |
| In conclusion, our data provided no evidence of a significant association between either PON1 promot... | DisGeNET | Detail |
| Association of L55M and Q192R polymorphisms in paraoxonase 1 (PON1) gene with breast cancer risk and... | DisGeNET | Detail |
| In this study, we enrolled 1746 type 2 diabetic subjects, determined 4 common genetic variants relat... | DisGeNET | Detail |
| The aim was to test whether polymorphisms in the PON1 coding region (Q192R and L55M) and its promote... | DisGeNET | Detail |
| PON1 Q192R can be used as the DNA marker test to evaluate the risk of CAD in postmenopausal Indian w... | DisGeNET | Detail |
| In the present study, we examined a possible association between the PON1 Q192R and L55M polymorphis... | DisGeNET | Detail |
| The Q192R polymorphism of the paraoxonase 1 gene is a risk factor for coronary artery disease in Sau... | DisGeNET | Detail |
| Serum PON-1 activity but not Q192R polymorphism is related to the extent of atherosclerosis. | DisGeNET | Detail |
| Gln192Arg polymorphism in paraoxonase 1 gene is associated with Alzheimer disease in a Chinese Han e... | DisGeNET | Detail |
| Are PON1 Q/R 192 and M/L 55 polymorphisms risk factors for diabetes complications in Turkish populat... | DisGeNET | Detail |
| Paraoxonase/arylesterase ratio, PON1 192Q/R polymorphism and PON1 status are associated with increas... | DisGeNET | Detail |
| In conclusion, we have shown that the Q192R polymorphism is a determinant of both PON1 concentration... | DisGeNET | Detail |
| The interaction between PON1 genes (rs662 and rs85460) and ApoE genes showed synergistic epistasis i... | DisGeNET | Detail |
| The objective of the current study was to investigate the PON1 polymorphisms Gln192Arg and Leu55Met ... | DisGeNET | Detail |
| In this study, we enrolled 1746 type 2 diabetic subjects, determined 4 common genetic variants relat... | DisGeNET | Detail |
| Paraoxonase 1 192 Gln/Arg gene polymorphism and cerebrovascular disease: interaction with type 2 dia... | DisGeNET | Detail |
| Association between PON1 rs662 polymorphism and coronary artery disease. | DisGeNET | Detail |
| Association between bipolar I disorder and the L55M and Q192R polymorphisms of the paraoxonase 1 (PO... | DisGeNET | Detail |
| Paraoxonase (PON)1 Q192R functional genotypes and PON1 Q192R genotype by smoking interactions are ri... | DisGeNET | Detail |
| Relationship between the paraoxonase 1 gene glutamine 192 to arginine polymorphism and gestational d... | DisGeNET | Detail |
| The difference in allele frequency for the PON(1) Q/R 192 gene polymorphism may be the cause of the ... | DisGeNET | Detail |
| The interaction between PON1 genes (rs662 and rs85460) and ApoE genes showed synergistic epistasis i... | DisGeNET | Detail |
| Paraoxonase-1 (PON1) activity, but not PON1(Q192R) phenotype, is a predictor of coronary artery dise... | DisGeNET | Detail |
| Our results suggest that the protective effect of PON1 rs662 SNP against lung carcinogenesis and the... | DisGeNET | Detail |
| Seventy one consecutive patients with brain tumors (43 with astrocytoma grade II/III and 28 with men... | DisGeNET | Detail |
| Aims and methods This study aimed to delineate the associations of the MetS with plasma PON1 activit... | DisGeNET | Detail |
| Synergistic epistasis of paraoxonase 1 (rs662 and rs85460) and apolipoprotein E4 genes in pathogenes... | DisGeNET | Detail |
| Protective effect of paraoxonase 1 gene variant Gln192Arg in age-related macular degeneration. | DisGeNET | Detail |
| Smoking and especially severe nicotine dependence are significantly associated with the MetS althoug... | DisGeNET | Detail |
| First survey of the three gene polymorphisms (PON1 Q192R, eNOS E298D and eNOS C-786T) potentially as... | DisGeNET | Detail |
| [Paraoxonase 1 polymorphisms and haplotypes and the risk for having offspring affected with spina bi... | DisGeNET | Detail |
| The association between systemic PON1 activity measures and a functional polymorphism (Q192R) result... | DisGeNET | Detail |
| To investigate the potential interaction between folate intake and the paraoxonase 1 (PON1) Q192R po... | DisGeNET | Detail |
| Three polymorphisms in the PON1 (Leu55Met and Gln192Arg) and PON2 (Ser311Cys) genes have been shown ... | DisGeNET | Detail |
| Association of paraoxonase-1(Q192R and L55M) gene polymorphisms and activity with colorectal cancer ... | DisGeNET | Detail |
| According to our results, PON1 Q192R polymorphism is a risk marker for insulin resistance, a patholo... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Two polymorphisms at the PON1 (M/L55 and Q/R192) have been shown to be associated with coronary arte... | DisGeNET | Detail |
| Paraoxonase (PON)1 Q192R functional genotypes and PON1 Q192R genotype by smoking interactions are ri... | DisGeNET | Detail |
| The salt stimulation property of serum paraoxonase (PON1) could be a valuable factor in evaluating t... | DisGeNET | Detail |
| Paraoxonase 1 Q192R and L55M polymorphisms and susceptibility to amyotrophic lateral sclerosis: a me... | DisGeNET | Detail |
| A preliminary study of human paraoxonase and PON 1 L/M55-PON 1 Q/R 192 polymorphisms in Turkish pati... | DisGeNET | Detail |
| The presence of the R allele of the Q192R PON1 polymorphism seems to potentiate this risk for stroke... | DisGeNET | Detail |
| Matrix metalloproteinase-9 and paraoxonase 1 Q/R192 gene polymorphisms and the risk of coronary arte... | DisGeNET | Detail |
| Association between PON1 rs662 polymorphism and coronary artery disease. | DisGeNET | Detail |
| The M55L and Q192R SNPs of the PON1 gene do not appear to be associated with late AMD in individuals... | DisGeNET | Detail |
| Association between butyrylcholinesterase activity and phenotypes, paraoxonase192 rs662 gene polymor... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We have studied the contribution of PON-1 and PON-2 single nucleotide polymorphisms (SNP; L55M, Q192... | DisGeNET | Detail |
| Q192R polymorphism of the paraoxonase-1 gene as a risk factor for obesity in Portuguese women. | DisGeNET | Detail |
| Arylesterase activity and antioxidant status depend on PON1-Q192R and PON1-L55M polymorphisms in sub... | DisGeNET | Detail |
| The Q192R (rs662; A/G) polymorphism, which results in the glutamine to arginine substitution at posi... | DisGeNET | Detail |
| Synergistic epistasis of paraoxonase 1 (rs662 and rs85460) and apolipoprotein E4 genes in pathogenes... | DisGeNET | Detail |
| Paraoxonase 1 (PON1) gene-108C>T and p.Q192R polymorphisms and arylesterase activity of the enzym... | DisGeNET | Detail |
| In this study, we enrolled 1746 type 2 diabetic subjects, determined 4 common genetic variants relat... | DisGeNET | Detail |
| Paraoxonase 1 (PON1) gene-108C>T and p.Q192R polymorphisms and arylesterase activity of the enzym... | DisGeNET | Detail |
| Paraoxonase-1 (PON1) activity, but not PON1(Q192R) phenotype, is a predictor of coronary artery dise... | DisGeNET | Detail |
| We found for the first time significant associations of CYP1B1 V432L (P=0.045), PON1 Q192R (P=0.039)... | DisGeNET | Detail |
| We found for the first time significant associations of CYP1B1 V432L (P=0.045), PON1 Q192R (P=0.039)... | DisGeNET | Detail |
| We found for the first time significant associations of CYP1B1 V432L (P=0.045), PON1 Q192R (P=0.039)... | 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
- rs662 dbSNP
- Genome
- hg19
- Position
- chr7:94,937,446-94,937,446
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 184.12
- Standard deviation of sample read depth (HGVD)
- 79.98
- Number of reference allele (HGVD)
- 818
- Number of alternative allele (HGVD)
- 1602
- Allele Frequency (HGVD)
- 0.6619834710743802
- Gene Symbol (HGVD)
- PON1
- 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))
- rs662
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6645
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 11136
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8624
- East Asian Allele Counts (ExAC)
- 5704
- East Asian Heterozygous Counts (ExAC)
- 1956
- East Asian Homozygous Counts (ExAC)
- 1874
- East Asian Allele Frequency (ExAC)
- 0.6614100185528757
- Chromosome Counts in All Race (ExAC)
- 121298
- Allele Counts in All Race (ExAC)
- 45735
- Heterozygous Counts in All Race (ExAC)
- 25765
- Homozygous Counts in All Race (ExAC)
- 9985
- Allele Frequency in All Race (ExAC)
- 0.37704661247506144
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