chr7:95316772:A>C Detail (hg38) (PON1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:94,946,084-94,946,084 View the variant detail on this assembly version. |
| hg38 | chr7:95,316,772-95,316,772 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000446.5:c.163T>G | NP_000437.3:p.Leu55Val |
| Ensemble | ENST00000222381.8:c.163T>G | ENST00000222381.8:p.Leu55Val |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
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 | 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 |
| 0.009 | 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 |
| 0.017 | coronary artery disease | rs4769874 (ALOX5AP), rs854560 (PON1), and rs4646903 (CYP1A1 MspI polymorphism) a... | BeFree | 25902778 | Detail |
| 0.017 | coronary artery disease | Three polymorphisms in the PON1 (Leu55Met and Gln192Arg) and PON2 (Ser311Cys) ge... | BeFree | 12454802 | Detail |
| <0.001 | Microangiopathy, Diabetic | In conclusion, all specific enzyme activities of PON1 were lower in patients wit... | BeFree | 11092501 | Detail |
| <0.001 | colorectal carcinoma | Association of paraoxonase-1(Q192R and L55M) gene polymorphisms and activity wit... | BeFree | 25684529 | Detail |
| 0.203 | atherosclerosis | Two common polymorphisms of the paraoxonase (PON1) gene, L55M and Q192R, were pr... | BeFree | 21302675 | Detail |
| 0.125 | Hypercholesterolemia, Familial | In 187 patients with familial hypercholesterolemia, we studied the seven most co... | BeFree | 15642273 | 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 |
| 0.007 | 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 |
| 0.003 | Ischemic Cerebrovascular Accident | We studied the significance of the Q192R and M55L polymorphisms of the PON1 gene... | BeFree | 17406108 | 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 |
| 0.027 | arteriosclerosis | Two common polymorphisms of the paraoxonase (PON1) gene, L55M and Q192R, were pr... | BeFree | 21302675 | Detail |
| 0.013 | age related macular degeneration | Association of paraoxonase 1 L55M and Q192R single-nucleotide polymorphisms with... | BeFree | 23538572 | Detail |
| 0.120 | autistic disorder | As predicted, Caucasian-American and not Italian families display a significant ... | BeFree | 16027737 | Detail |
| 0.049 | myocardial infarction | The paraoxonase (PON1) polymorphisms, Leu55Met and Gln192Arg, modulate intima-me... | BeFree | 20639675 | Detail |
| 0.049 | myocardial infarction | We evaluated three PON polymorphisms (PON1 Leu55Met and Gln192Arg; PON2 Ser311Cy... | BeFree | 14984433 | 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 |
| 0.003 | 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 |
| 0.071 | Diabetes Mellitus, Non-Insulin-Dependent | We investigated whether the human serum paraoxonase (PON1) Q/R 192 and M/L 55 po... | BeFree | 21223956 | Detail |
| 0.072 | Coronary Arteriosclerosis | PON1 L55M polymorphism is not a predictor of coronary atherosclerosis either alo... | BeFree | 11851721 | 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 |
| 0.003 | IgA glomerulonephritis | The aim was to test whether polymorphisms in the PON1 coding region (Q192R and L... | BeFree | 17173245 | Detail |
| 0.049 | myocardial infarction | In the present study, we examined a possible association between the PON1 Q192R ... | BeFree | 20833162 | Detail |
| 0.138 | diabetes mellitus | Are PON1 Q/R 192 and M/L 55 polymorphisms risk factors for diabetes complication... | BeFree | 21223956 | Detail |
| <0.001 | Fabry disease | The objective of the current study was to investigate the PON1 polymorphisms Gln... | BeFree | 22796398 | Detail |
| <0.001 | bipolar I disorder | Association between bipolar I disorder and the L55M and Q192R polymorphisms of t... | BeFree | 21783258 | Detail |
| 0.123 | Brain Neoplasms | Seventy one consecutive patients with brain tumors (43 with astrocytoma grade II... | BeFree | 20723250 | 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 |
| 0.120 | 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 |
| 0.150 | 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 |
| 0.013 | age related macular degeneration | The M55L and Q192R SNPs of the PON1 gene do not appear to be associated with lat... | BeFree | 15488805 | Detail |
| 0.120 | 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 |
| 0.177 | Cardiovascular Diseases | Arylesterase activity and antioxidant status depend on PON1-Q192R and PON1-L55M ... | BeFree | 17585031 | Detail |
| 0.005 | Diabetes | The current project was designed to investigate the association between the poly... | BeFree | 11918623 | Detail |
| 0.002 | diabetes mellitus | The current project was designed to investigate the association between the poly... | BeFree | 11918623 | Detail |
| 0.138 | diabetes mellitus | The current project was designed to investigate the association between the poly... | BeFree | 11918623 | Detail |
| 0.001 | Diabetes | The current project was designed to investigate the association between the poly... | BeFree | 11918623 | Detail |
| 0.041 | Alzheimer's disease | The frequency of the M55M genotype at the PON1 L55M locus was found to be signif... | BeFree | 18322397 | Detail |
| 0.193 | Coronary heart disease | Paraoxonase-1 L55M polymorphism is associated with an abnormal oral glucose tole... | BeFree | 11889198 | Detail |
| 0.011 | Diabetes Mellitus, Insulin-Dependent | Association between p.Leu54Met polymorphism at the paraoxonase-1 gene and planta... | BeFree | 18469206 | Detail |
| 0.193 | Coronary heart disease | PON1 M/L55 mutation protects high-risk patients against coronary artery disease. | BeFree | 14996478 | Detail |
| <0.001 | childhood leukemia | PON1 rs854560 (L55M) was associated with an increased risk of developing childho... | BeFree | 22976839 | Detail |
| 0.208 | coronary artery disease | Only PON1 L55M (MM) genotype frequency was significantly higher in CAD patients ... | BeFree | 19269283 | Detail |
| <0.001 | Ovarian Diseases | None of the variants of the Leu55Met PON1 polymorphism was associated with more ... | BeFree | 20334584 | Detail |
| 0.009 | polycystic ovary syndrome | The role of chronic inflammation and Leu55Met PON1 polymorphism in the pathogene... | BeFree | 20334584 | Detail |
| 0.121 | lymphoma | The numbers of cases of particular subtypes were rather small for stable estimat... | BeFree | 16985026 | Detail |
| 0.131 | rheumatoid arthritis | The L55M polymorphism of paraoxonase-1 is a risk factor for rheumatoid arthritis... | BeFree | 20812194 | Detail |
| <0.001 | T-Cell Lymphoma | The numbers of cases of particular subtypes were rather small for stable estimat... | BeFree | 16985026 | Detail |
| 0.072 | Coronary Arteriosclerosis | PON1 M/L55 mutation protects high-risk patients against coronary artery disease. | BeFree | 14996478 | Detail |
| 0.203 | atherosclerosis | We studied the association of the PON1 M/L55 genotype with the extent of atheros... | BeFree | 14642403 | Detail |
| 0.027 | arteriosclerosis | We related the PON1 M55L genotypes to the extent of atherosclerosis in left ante... | BeFree | 15284530 | Detail |
| 0.240 | MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5 (finding) | NA | CLINVAR | Detail | |
| 0.072 | Coronary Arteriosclerosis | Smoking-dependent association between paraoxonase 1 M/L55 genotype and coronary ... | BeFree | 14642403 | Detail |
| 0.027 | arteriosclerosis | We studied the association of the PON1 M/L55 genotype with the extent of atheros... | BeFree | 14642403 | Detail |
| 0.203 | atherosclerosis | We related the PON1 M55L genotypes to the extent of atherosclerosis in left ante... | BeFree | 15284530 | Detail |
| 0.208 | coronary artery disease | PON1 M/L55 mutation protects high-risk patients against coronary artery disease. | BeFree | 14996478 | Detail |
| 0.203 | atherosclerosis | Paraoxonase producing PON1 gene M/L55 polymorphism is related to autopsy-verifie... | BeFree | 11472729 | Detail |
| 0.193 | Coronary heart disease | Genotype frequencies did not differ between cases and controls but the CHD risk ... | BeFree | 14636952 | Detail |
| 0.072 | Coronary Arteriosclerosis | Association of paraoxonase-1 M55L genotype and alcohol consumption with coronary... | BeFree | 15284530 | Detail |
| 0.027 | arteriosclerosis | Paraoxonase producing PON1 gene M/L55 polymorphism is related to autopsy-verifie... | BeFree | 11472729 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| 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 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 |
| 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 |
| rs4769874 (ALOX5AP), rs854560 (PON1), and rs4646903 (CYP1A1 MspI polymorphism) are significantly ass... | DisGeNET | Detail |
| Three polymorphisms in the PON1 (Leu55Met and Gln192Arg) and PON2 (Ser311Cys) genes have been shown ... | DisGeNET | Detail |
| In conclusion, all specific enzyme activities of PON1 were lower in patients with type 2 diabetes in... | DisGeNET | Detail |
| Association of paraoxonase-1(Q192R and L55M) gene polymorphisms and activity with colorectal cancer ... | DisGeNET | Detail |
| Two common polymorphisms of the paraoxonase (PON1) gene, L55M and Q192R, were proven to mitigate ath... | DisGeNET | Detail |
| In 187 patients with familial hypercholesterolemia, we studied the seven most common single nucleoti... | 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 |
| 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 |
| We studied the significance of the Q192R and M55L polymorphisms of the PON1 gene and the C311S polym... | DisGeNET | Detail |
| A preliminary study of human paraoxonase and PON 1 L/M55-PON 1 Q/R 192 polymorphisms in Turkish pati... | DisGeNET | Detail |
| Two common polymorphisms of the paraoxonase (PON1) gene, L55M and Q192R, were proven to mitigate ath... | DisGeNET | Detail |
| Association of paraoxonase 1 L55M and Q192R single-nucleotide polymorphisms with age-related macular... | DisGeNET | Detail |
| As predicted, Caucasian-American and not Italian families display a significant association between ... | DisGeNET | Detail |
| The paraoxonase (PON1) polymorphisms, Leu55Met and Gln192Arg, modulate intima-medial artery thickeni... | DisGeNET | Detail |
| We evaluated three PON polymorphisms (PON1 Leu55Met and Gln192Arg; PON2 Ser311Cys) as possible risk ... | 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 |
| 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 |
| We investigated whether the human serum paraoxonase (PON1) Q/R 192 and M/L 55 polymorphisms are asso... | DisGeNET | Detail |
| PON1 L55M polymorphism is not a predictor of coronary atherosclerosis either alone or in combination... | 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 |
| The aim was to test whether polymorphisms in the PON1 coding region (Q192R and L55M) and its promote... | DisGeNET | Detail |
| In the present study, we examined a possible association between the PON1 Q192R and L55M polymorphis... | DisGeNET | Detail |
| Are PON1 Q/R 192 and M/L 55 polymorphisms risk factors for diabetes complications in Turkish populat... | DisGeNET | Detail |
| The objective of the current study was to investigate the PON1 polymorphisms Gln192Arg and Leu55Met ... | DisGeNET | Detail |
| Association between bipolar I disorder and the L55M and Q192R polymorphisms of the paraoxonase 1 (PO... | DisGeNET | Detail |
| Seventy one consecutive patients with brain tumors (43 with astrocytoma grade II/III and 28 with men... | 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 |
| 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 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 M55L and Q192R SNPs of the PON1 gene do not appear to be associated with late AMD in individuals... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We have studied the contribution of PON-1 and PON-2 single nucleotide polymorphisms (SNP; L55M, Q192... | DisGeNET | Detail |
| Arylesterase activity and antioxidant status depend on PON1-Q192R and PON1-L55M polymorphisms in sub... | DisGeNET | Detail |
| The current project was designed to investigate the association between the polymorphisms of two PON... | DisGeNET | Detail |
| The current project was designed to investigate the association between the polymorphisms of two PON... | DisGeNET | Detail |
| The current project was designed to investigate the association between the polymorphisms of two PON... | DisGeNET | Detail |
| The current project was designed to investigate the association between the polymorphisms of two PON... | DisGeNET | Detail |
| The frequency of the M55M genotype at the PON1 L55M locus was found to be significantly increased in... | DisGeNET | Detail |
| Paraoxonase-1 L55M polymorphism is associated with an abnormal oral glucose tolerance test and diffe... | DisGeNET | Detail |
| Association between p.Leu54Met polymorphism at the paraoxonase-1 gene and plantar fascia thickness i... | DisGeNET | Detail |
| PON1 M/L55 mutation protects high-risk patients against coronary artery disease. | DisGeNET | Detail |
| PON1 rs854560 (L55M) was associated with an increased risk of developing childhood leukemia (LM + MM... | DisGeNET | Detail |
| Only PON1 L55M (MM) genotype frequency was significantly higher in CAD patients than in controls (P&... | DisGeNET | Detail |
| None of the variants of the Leu55Met PON1 polymorphism was associated with more frequent occurrence ... | DisGeNET | Detail |
| The role of chronic inflammation and Leu55Met PON1 polymorphism in the pathogenesis of polycystic ov... | DisGeNET | Detail |
| The numbers of cases of particular subtypes were rather small for stable estimates, but we noted tha... | DisGeNET | Detail |
| The L55M polymorphism of paraoxonase-1 is a risk factor for rheumatoid arthritis. | DisGeNET | Detail |
| The numbers of cases of particular subtypes were rather small for stable estimates, but we noted tha... | DisGeNET | Detail |
| PON1 M/L55 mutation protects high-risk patients against coronary artery disease. | DisGeNET | Detail |
| We studied the association of the PON1 M/L55 genotype with the extent of atherosclerosis in an autop... | DisGeNET | Detail |
| We related the PON1 M55L genotypes to the extent of atherosclerosis in left anterior descending coro... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Smoking-dependent association between paraoxonase 1 M/L55 genotype and coronary atherosclerosis in m... | DisGeNET | Detail |
| We studied the association of the PON1 M/L55 genotype with the extent of atherosclerosis in an autop... | DisGeNET | Detail |
| We related the PON1 M55L genotypes to the extent of atherosclerosis in left anterior descending coro... | DisGeNET | Detail |
| PON1 M/L55 mutation protects high-risk patients against coronary artery disease. | DisGeNET | Detail |
| Paraoxonase producing PON1 gene M/L55 polymorphism is related to autopsy-verified artery-wall athero... | DisGeNET | Detail |
| Genotype frequencies did not differ between cases and controls but the CHD risk associated with smok... | DisGeNET | Detail |
| Association of paraoxonase-1 M55L genotype and alcohol consumption with coronary atherosclerosis: th... | DisGeNET | Detail |
| Paraoxonase producing PON1 gene M/L55 polymorphism is related to autopsy-verified artery-wall athero... | 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
- rs854560 dbSNP
- Genome
- hg38
- Position
- chr7:95,316,772-95,316,772
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
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