chr6:46671938:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:46,671,938-46,703,430 |
| hg38 | chr6:46,704,201-46,735,693 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Cardiomyopathy, Dilated | NA | BeFree | Detail | |
| <0.001 | hypertrophic cardiomyopathy | NA | BeFree | Detail | |
| 0.005 | Cardiovascular Diseases | NA | BeFree,GAD | Detail | |
| 0.003 | cerebral infarction | NA | LHGDN | Detail | |
| 0.003 | ulcerative colitis | NA | BeFree,GAD | Detail | |
| <0.001 | Colonic Neoplasms | NA | BeFree | Detail | |
| 0.009 | Coronary Arteriosclerosis | Lipoprotein-associated phospholipase A2 single-nucleotide polymorphisms and card... | BeFree,GAD | 24732951 | Detail |
| 0.009 | Coronary Arteriosclerosis | Associations of platelet-activating factor acetylhydrolase (PAF-AH) gene polymor... | BeFree,GAD | 25034894 | Detail |
| 0.009 | Coronary Arteriosclerosis | Nonsynonymous polymorphisms in PLA2G7 gene are associated with the risk of coron... | BeFree,GAD | 25690150 | Detail |
| 0.009 | Coronary Arteriosclerosis | Deciphering the Causal Role of sPLA2s and Lp-PLA2 in Coronary Heart Disease. | BeFree,GAD | 26338298 | Detail |
| 0.143 | Coronary heart disease | Lipoprotein-associated phospholipase A2 single-nucleotide polymorphisms and card... | BeFree,CTD_human,GAD,LHGDN | 24732951 | Detail |
| 0.143 | Coronary heart disease | Associations of platelet-activating factor acetylhydrolase (PAF-AH) gene polymor... | BeFree,CTD_human,GAD,LHGDN | 25034894 | Detail |
| 0.143 | Coronary heart disease | Nonsynonymous polymorphisms in PLA2G7 gene are associated with the risk of coron... | BeFree,CTD_human,GAD,LHGDN | 25690150 | Detail |
| 0.143 | Coronary heart disease | Deciphering the Causal Role of sPLA2s and Lp-PLA2 in Coronary Heart Disease. | BeFree,CTD_human,GAD,LHGDN | 26338298 | Detail |
| 0.143 | Coronary heart disease | Finally, Mendelian randomization can be used to reveal or exclude causal relatio... | BeFree,CTD_human,GAD,LHGDN | 26477595 | Detail |
| <0.001 | Presenile dementia | NA | BeFree | Detail | |
| 0.001 | diabetes mellitus | NA | BeFree | Detail | |
| <0.001 | Diabetes Mellitus, Insulin-Dependent | NA | BeFree | Detail | |
| 0.121 | IgA glomerulonephritis | NA | BeFree,CTD_human | Detail | |
| <0.001 | hemolytic-uremic syndrome | NA | BeFree | Detail | |
| 0.003 | Hypercholesterolemia | NA | BeFree,LHGDN | Detail | |
| <0.001 | Hypercholesterolemia, Familial | NA | BeFree | Detail | |
| 0.122 | Immediate hypersensitivity | NA | CTD_human,GAD | Detail | |
| <0.001 | Hypertensive disease | NA | BeFree | Detail | |
| 0.003 | pulmonary hypertension | NA | LHGDN | Detail | |
| 0.005 | Inflammation | NA | GAD | Detail | |
| 0.002 | Kidney Failure, Chronic | NA | GAD | Detail | |
| <0.001 | Lecithin Acyltransferase Deficiency | NA | BeFree | Detail | |
| <0.001 | lymphoma | NA | BeFree | Detail | |
| 0.120 | Inborn errors of metabolism | NA | CTD_human | Detail | |
| <0.001 | Mucocutaneous Lymph Node Syndrome | NA | BeFree | Detail | |
| 0.011 | coronary artery disease | Multivariate logistic regression analysis with adjustment for age, body mass ind... | BeFree | 14709372 | Detail |
| <0.001 | hyperuricemia | Multivariate logistic regression analysis with adjustment for age, body mass ind... | BeFree | 14709372 | Detail |
| 0.081 | Metabolic syndrome X | Carriage of the V279F homozygous genotype, a rare allele, within the gene encodi... | BeFree | 25078067 | Detail |
| <0.001 | Hypertensive disease | A mutation in plasma platelet-activating factor acetylhydrolase (Val279Phe) is a... | BeFree | 9759612 | Detail |
| 0.003 | Hypercholesterolemia | Multivariate logistic regression analysis with adjustment for age, body mass ind... | BeFree | 14709372 | Detail |
| 0.005 | Cardiovascular Diseases | The Val279Phe variant of the lipoprotein-associated phospholipase A2 gene is ass... | BeFree | 16787988 | Detail |
| 0.143 | Coronary heart disease | Lipoprotein-associated phospholipase A2 gene V279F polymorphisms and coronary he... | BeFree | 21107710 | Detail |
| 0.009 | Coronary Arteriosclerosis | Lipoprotein-associated phospholipase A2 gene V279F polymorphisms and coronary he... | BeFree | 21107710 | Detail |
| 0.008 | myocardial infarction | NA | BeFree,GAD,LHGDN | Detail | |
| 0.080 | nephrotic syndrome | NA | RGD | Detail | |
| <0.001 | Ovarian Diseases | NA | BeFree | Detail | |
| 0.003 | polycystic ovary syndrome | NA | BeFree,GAD | Detail | |
| <0.001 | Adenomatous Polyposis Coli | NA | BeFree | Detail | |
| 0.003 | Respiratory Distress Syndrome, Adult | NA | BeFree,GAD | Detail | |
| 0.007 | schizophrenia | NA | BeFree,GAD | Detail | |
| 0.121 | Cerebrovascular accident | NA | BeFree,CTD_human | Detail | |
| 0.001 | Vascular Diseases | NA | BeFree | Detail | |
| 0.002 | Peripheral Vascular Diseases | NA | GAD | Detail | |
| 0.002 | Bronchial Hyperreactivity | NA | GAD | Detail | |
| 0.005 | Aortic Aneurysm, Abdominal | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | cholangiocarcinoma | Expression of LIS1 (platelet-activating factor acetylhydrolase isoform 1b) was a... | BeFree | 25479763 | Detail |
| <0.001 | Uremia syndrome | NA | BeFree | Detail | |
| <0.001 | Stable angina | NA | BeFree | Detail | |
| <0.001 | Familial dilated cardiomyopathy | NA | BeFree | Detail | |
| <0.001 | Primary hypercholesterolemia | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of prostate | NA | BeFree | Detail | |
| 0.080 | Endotoxemia | NA | RGD | Detail | |
| <0.001 | dementia | NA | BeFree | Detail | |
| 0.002 | body mass | NA | GAD | Detail | |
| <0.001 | Atherosclerotic occlusive disease | NA | BeFree | Detail | |
| 0.005 | Carotid Atherosclerosis | NA | BeFree,GAD | Detail | |
| <0.001 | Leukemogenesis | NA | BeFree | Detail | |
| <0.001 | prostate carcinoma | NA | BeFree | Detail | |
| <0.001 | hyperuricemia | NA | BeFree | Detail | |
| <0.001 | cardiac event | NA | BeFree | Detail | |
| <0.001 | Cardiomyopathies | NA | BeFree | Detail | |
| <0.001 | Vascular inflammations | NA | BeFree | Detail | |
| <0.001 | Ischemic stroke | NA | BeFree | Detail | |
| 0.003 | Acute coronary syndrome | NA | BeFree,GAD | Detail | |
| <0.001 | Intestinal Polyposis | NA | BeFree | Detail | |
| <0.001 | Aortic valve disorder | NA | BeFree | Detail | |
| <0.001 | Inflammatory disorder | NA | BeFree | Detail | |
| 0.120 | IgE responsiveness, atopic | NA | CTD_human | Detail | |
| 0.011 | coronary artery disease | Lipoprotein-associated phospholipase A2 single-nucleotide polymorphisms and card... | BeFree,GAD,LHGDN | 24732951 | Detail |
| <0.001 | Ischemic Cerebrovascular Accident | NA | BeFree | Detail | |
| 0.120 | Platelet-Activating Factor Acetylhydrolase Deficiency | NA | UNIPROT | Detail | |
| 0.005 | Alzheimer's disease | NA | GAD | Detail | |
| 0.002 | Angina Pectoris | NA | GAD | Detail | |
| <0.001 | aortic aneurysm | NA | BeFree | Detail | |
| 0.007 | arteriosclerosis | NA | BeFree | Detail | |
| 0.123 | asthma | NA | BeFree,CTD_human,GAD | Detail | |
| 0.022 | atherosclerosis | NA | BeFree,GAD,LHGDN | Detail | |
| 0.003 | atrial fibrillation | NA | LHGDN | Detail | |
| <0.001 | blind loop syndrome | Associations of platelet-activating factor acetylhydrolase (PAF-AH) gene polymor... | BeFree | 25034894 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Lipoprotein-associated phospholipase A2 single-nucleotide polymorphisms and cardiovascular events in... | DisGeNET | Detail |
| Associations of platelet-activating factor acetylhydrolase (PAF-AH) gene polymorphisms with circulat... | DisGeNET | Detail |
| Nonsynonymous polymorphisms in PLA2G7 gene are associated with the risk of coronary heart disease in... | DisGeNET | Detail |
| Deciphering the Causal Role of sPLA2s and Lp-PLA2 in Coronary Heart Disease. | DisGeNET | Detail |
| Lipoprotein-associated phospholipase A2 single-nucleotide polymorphisms and cardiovascular events in... | DisGeNET | Detail |
| Associations of platelet-activating factor acetylhydrolase (PAF-AH) gene polymorphisms with circulat... | DisGeNET | Detail |
| Nonsynonymous polymorphisms in PLA2G7 gene are associated with the risk of coronary heart disease in... | DisGeNET | Detail |
| Deciphering the Causal Role of sPLA2s and Lp-PLA2 in Coronary Heart Disease. | DisGeNET | Detail |
| Finally, Mendelian randomization can be used to reveal or exclude causal relationships between herit... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalen... | DisGeNET | Detail |
| Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalen... | DisGeNET | Detail |
| Carriage of the V279F homozygous genotype, a rare allele, within the gene encoding Lp-PLA2 leads to ... | DisGeNET | Detail |
| A mutation in plasma platelet-activating factor acetylhydrolase (Val279Phe) is a genetic risk factor... | DisGeNET | Detail |
| Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalen... | DisGeNET | Detail |
| The Val279Phe variant of the lipoprotein-associated phospholipase A2 gene is associated with catalyt... | DisGeNET | Detail |
| Lipoprotein-associated phospholipase A2 gene V279F polymorphisms and coronary heart disease: a meta-... | DisGeNET | Detail |
| Lipoprotein-associated phospholipase A2 gene V279F polymorphisms and coronary heart disease: a meta-... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Expression of LIS1 (platelet-activating factor acetylhydrolase isoform 1b) was assessed in CCA speci... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Lipoprotein-associated phospholipase A2 single-nucleotide polymorphisms and cardiovascular events in... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Associations of platelet-activating factor acetylhydrolase (PAF-AH) gene polymorphisms with circulat... | 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
- rs16874954 dbSNP
- Genome
- hg19
- Position
- chr6:46,671,938-46,703,430
- Variant Type
- snv
Genome browser