chr3:49394607:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:49,394,607-49,396,038 |
| hg38 | chr3:49,357,174-49,358,605 |
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 |
|---|---|---|---|---|---|
| 0.126 | squamous cell carcinoma | NA | BeFree,CTD_human,GAD,LHGDN | Detail | |
| 0.120 | Carcinoma, Transitional Cell | NA | CTD_human | Detail | |
| 0.123 | Cardiomyopathy, Dilated | NA | BeFree,CTD_human,GAD | Detail | |
| 0.121 | Cardiovascular Diseases | NA | BeFree,CTD_human | Detail | |
| 0.120 | brain ischemia | NA | CTD_human | Detail | |
| <0.001 | colitis | NA | BeFree | Detail | |
| 0.002 | colorectal carcinoma | Determination of gene expression and serum levels of MnSOD and GPX1 in colorecta... | BeFree | 25550558 | Detail |
| 0.002 | Colorectal Neoplasms | NA | GAD | Detail | |
| 0.006 | Coronary Arteriosclerosis | NA | BeFree,GAD | Detail | |
| 0.003 | Coronary heart disease | NA | BeFree,GAD | Detail | |
| 0.002 | Crohn Disease | NA | GAD | Detail | |
| <0.001 | Diabetes | NA | BeFree | Detail | |
| 0.006 | diabetes mellitus | NA | BeFree,GAD,LHGDN | Detail | |
| 0.200 | Diabetes Mellitus, Experimental | NA | CTD_human,RGD | Detail | |
| 0.128 | Diabetes Mellitus, Non-Insulin-Dependent | Association of Superoxide dismutases (SOD1 and SOD2) and Glutathione peroxidase ... | BeFree,CTD_human,GAD | 25283363 | Detail |
| 0.002 | Diabetic Angiopathies | NA | GAD | Detail | |
| <0.001 | Diabetic Nephropathy | NA | BeFree | Detail | |
| <0.001 | Diabetic Neuropathies | NA | BeFree | Detail | |
| 0.012 | DNA Damage | NA | GAD | Detail | |
| 0.003 | Dyskinetic syndrome | NA | BeFree,GAD | Detail | |
| 0.120 | epilepsy | NA | CTD_human | Detail | |
| 0.120 | Fatty Liver | NA | CTD_human | Detail | |
| <0.001 | fibromyalgia | Evaluation of some antioxidant enzyme activities (SOD and GPX) and their polymor... | BeFree | 24817295 | Detail |
| <0.001 | Friedreich ataxia | NA | BeFree | Detail | |
| 0.002 | generalized atherosclerosis | NA | GAD | Detail | |
| <0.001 | Glioma | NA | BeFree | Detail | |
| <0.001 | Hamartoma Syndrome, Multiple | Second, exogenously introduced RORα or CS treatment induced the mRNA level of an... | BeFree | 24597775 | Detail |
| 0.120 | Head and Neck Neoplasms | NA | CTD_human | Detail | |
| 0.120 | Hepatitis, Chronic | NA | CTD_human | Detail | |
| <0.001 | Hepatolenticular Degeneration | GPX1 genotypes were not related to phenotypic manifestations of WD. | BeFree | 24517502 | Detail |
| <0.001 | HIV Infections | NA | BeFree | Detail | |
| 0.120 | hyperglycemia | NA | BeFree,CTD_human | Detail | |
| 0.120 | hyperinsulinism | NA | BeFree,CTD_human | Detail | |
| 0.003 | Hyperplasia | NA | LHGDN | Detail | |
| 0.127 | Hypertensive disease | NA | CTD_human,GAD | Detail | |
| 0.120 | hyperthyroidism | NA | CTD_human | Detail | |
| <0.001 | male infertility | NA | BeFree | Detail | |
| <0.001 | ischemia | NA | BeFree | Detail | |
| 0.002 | Kidney Failure, Chronic | NA | GAD | Detail | |
| <0.001 | liver cirrhosis | NA | BeFree | Detail | |
| <0.001 | Liver Cirrhosis, Alcoholic | NA | BeFree | Detail | |
| 0.002 | Liver diseases | NA | GAD | Detail | |
| 0.005 | Chronic Obstructive Airway Disease | NA | GAD | Detail | |
| 0.129 | Lung Neoplasms | NA | BeFree,CTD_human,LHGDN | Detail | |
| <0.001 | lymphoma | NA | BeFree | Detail | |
| <0.001 | Lymphoma, Follicular | NA | BeFree | Detail | |
| 0.009 | Lymphoma, Non-Hodgkin | NA | GAD | Detail | |
| 0.002 | melanoma | NA | GAD | Detail | |
| <0.001 | meningioma | NA | BeFree | Detail | |
| 0.002 | Mouth Neoplasms | NA | GAD | Detail | |
| 0.003 | myocardial infarction | NA | LHGDN | Detail | |
| <0.001 | neuroblastoma | NA | BeFree | Detail | |
| 0.120 | obesity | NA | BeFree,CTD_human | Detail | |
| <0.001 | Obesity, Morbid | NA | BeFree | Detail | |
| 0.005 | Occupational Diseases | NA | GAD | Detail | |
| 0.002 | Degenerative polyarthritis | NA | GAD | Detail | |
| 0.120 | osteoporosis | NA | BeFree,CTD_human | Detail | |
| 0.002 | Pancreatic Neoplasm | NA | GAD | Detail | |
| 0.123 | Parkinson disease | NA | CTD_human,LHGDN | Detail | |
| 0.120 | Peripheral neuropathy | NA | BeFree,CTD_human | Detail | |
| <0.001 | Prostatic Diseases | NA | BeFree | Detail | |
| 0.003 | Prostatic Neoplasms | NA | LHGDN | Detail | |
| 0.002 | pseudoxanthoma elasticum | NA | GAD | Detail | |
| <0.001 | pulmonary emphysema | NA | BeFree | Detail | |
| 0.120 | Reperfusion Injury | NA | CTD_human | Detail | |
| 0.006 | schizophrenia | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | Septicemia | Evaluating the subgroup of 293 ICU patients with sepsis, a pooled analysis inclu... | BeFree | 25497738 | Detail |
| 0.002 | Skin Neoplasms | NA | GAD | Detail | |
| 0.003 | Cerebrovascular accident | NA | BeFree,GAD | Detail | |
| 0.002 | Sunburn | NA | GAD | Detail | |
| <0.001 | Unipolar Depression | Likewise, the gene expression of oxidative defence enzymes superoxide dismutases... | BeFree | 24967945 | Detail |
| 0.003 | urticaria | NA | LHGDN | Detail | |
| 0.002 | Vascular Diseases | NA | GAD | Detail | |
| <0.001 | diffuse large B-cell lymphoma | NA | BeFree | Detail | |
| 0.003 | Peripheral Vascular Diseases | NA | BeFree,LHGDN | Detail | |
| <0.001 | essential hypertension | NA | BeFree | Detail | |
| <0.001 | Rous Sarcoma | NA | BeFree | Detail | |
| 0.003 | lingual-facial-buccal dyskinesia | NA | BeFree,GAD | Detail | |
| <0.001 | Malignant neoplasm of mouth | EGCG also differentially modulated the mRNA expressions of SIRT3-associated down... | BeFree | 25329972 | Detail |
| <0.001 | Secondary malignant neoplasm of bone | NA | BeFree | Detail | |
| 0.002 | Malnutrition | NA | GAD | Detail | |
| 0.002 | Aortic Aneurysm, Thoracic | NA | GAD | Detail | |
| <0.001 | Giant Cell Tumor of Bone | NA | BeFree | Detail | |
| <0.001 | Lip and oral cavity carcinoma | EGCG also differentially modulated the mRNA expressions of SIRT3-associated down... | BeFree | 25329972 | Detail |
| 0.002 | Personality Traits | NA | GAD | Detail | |
| 0.002 | Amphetamine-Related Disorders | NA | GAD | Detail | |
| 0.002 | Substance-Related Disorders | NA | GAD | Detail | |
| <0.001 | Selenium deficiency | NA | BeFree | Detail | |
| 0.026 | Malignant neoplasm of lung | NA | BeFree,GAD | Detail | |
| 0.002 | age related macular degeneration | NA | GAD | Detail | |
| 0.002 | Oxidative Stress | NA | GAD | Detail | |
| <0.001 | Sepsis | Evaluating the subgroup of 293 ICU patients with sepsis, a pooled analysis inclu... | BeFree | 25497738 | Detail |
| <0.001 | Keshan disease | NA | BeFree | Detail | |
| <0.001 | Stage IV Prostate Carcinoma | Seven interactions were statistically significant after adjusting for multiple t... | BeFree | 25315963 | Detail |
| 0.003 | Cancer of Head and Neck | NA | BeFree,GAD | Detail | |
| <0.001 | Restenosis | NA | BeFree | Detail | |
| 0.002 | Complications of Diabetes Mellitus | NA | GAD | Detail | |
| <0.001 | intestinal cancer | NA | BeFree | Detail | |
| 0.013 | Malignant neoplasm of prostate | NA | BeFree,GAD | Detail | |
| <0.001 | Non-alcoholic Fatty Liver Disease | NA | BeFree | Detail | |
| 0.003 | dementia | NA | LHGDN | Detail | |
| <0.001 | Recurrent tumor | NA | BeFree | Detail | |
| 0.005 | Metabolic syndrome X | NA | BeFree,GAD | Detail | |
| <0.001 | Acute coronary syndrome | The aim was to determine (a) Ala-16Val-SOD2 dimorphisms; (b) allelic frequency a... | BeFree | 21062213 | Detail |
| <0.001 | lymphoma | Data from two population-based, case-control studies of lymphoma in the UK (700 ... | BeFree | 16956821 | Detail |
| 0.123 | Cardiomyopathy, Dilated | The aim was to determine (a) Ala-16Val-SOD2 dimorphisms; (b) allelic frequency a... | BeFree | 21062213 | Detail |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| 0.004 | prostate carcinoma | NA | BeFree | Detail | |
| 0.004 | breast carcinoma | NA | BeFree | Detail | |
| 0.002 | Carcinoma of lung | NA | BeFree | Detail | |
| 0.002 | Carcinoma of lung | We evaluated potential associations between gene variants that result in reduced... | BeFree | 17548672 | Detail |
| 0.026 | Malignant neoplasm of lung | We evaluated potential associations between gene variants that result in reduced... | BeFree | 17548672 | Detail |
| <0.001 | Tardive Dyskinesia | NA | BeFree | Detail | |
| <0.001 | colon carcinoma | NA | BeFree | Detail | |
| 0.002 | Carcinoma of bladder | NA | BeFree | Detail | |
| <0.001 | Central neuroblastoma | NA | BeFree | Detail | |
| <0.001 | Malignant Squamous Cell Neoplasm | NA | BeFree | Detail | |
| <0.001 | breast adenocarcinoma | NA | BeFree | Detail | |
| 0.002 | Drug-Induced Liver Injury | NA | GAD | Detail | |
| <0.001 | Acute coronary syndrome | NA | BeFree | Detail | |
| <0.001 | Mammary Carcinoma, Human | NA | BeFree | Detail | |
| <0.001 | major depressive disorder | Likewise, the gene expression of oxidative defence enzymes superoxide dismutases... | BeFree | 24967945 | Detail |
| 0.131 | Mammary Neoplasms | NA | CTD_human,LHGDN | Detail | |
| <0.001 | Skin Carcinogenesis | NA | BeFree | Detail | |
| 0.009 | colorectal cancer | Determination of gene expression and serum levels of MnSOD and GPX1 in colorecta... | BeFree,GAD | 25550558 | Detail |
| <0.001 | brain edema | NA | BeFree | Detail | |
| <0.001 | Cirrhosis | NA | BeFree | Detail | |
| <0.001 | Meningioma, benign, no ICD-O subtype | NA | BeFree | Detail | |
| <0.001 | AMYOTROPHIC LATERAL SCLEROSIS 1 | NA | BeFree | Detail | |
| 0.003 | coronary artery disease | NA | BeFree,GAD | Detail | |
| 0.001 | liver carcinoma | NA | BeFree | Detail | |
| <0.001 | Pediatric Obesity | We aimed to study 59 single nucleotide polymorphisms (SNPs) for GPX1-7 genes and... | BeFree | 25471206 | Detail |
| <0.001 | Kashin-Beck Disease | NA | BeFree | Detail | |
| 0.002 | Cerebral Hemorrhage | NA | GAD | Detail | |
| <0.001 | Stage IV Prostate Cancer AJCC v7 | Seven interactions were statistically significant after adjusting for multiple t... | BeFree | 25315963 | Detail |
| <0.001 | Nonalcoholic Steatohepatitis | RORα decreases oxidative stress through the induction of SOD2 and GPx1 expressio... | BeFree | 24597775 | Detail |
| 0.002 | Solar Erythema | NA | GAD | Detail | |
| 0.003 | adenocarcinoma | NA | LHGDN | Detail | |
| 0.003 | adenoma | NA | BeFree,GAD | Detail | |
| 0.003 | Alzheimer's disease | NA | BeFree,GAD | Detail | |
| 0.002 | Aneurysm, Dissecting | NA | GAD | Detail | |
| 0.001 | arteriosclerosis | NA | BeFree | Detail | |
| 0.002 | asthma | NA | GAD | Detail | |
| 0.001 | atherosclerosis | NA | BeFree | Detail | |
| 0.123 | autistic disorder | NA | BeFree,CTD_human,GAD | Detail | |
| 0.012 | Malignant neoplasm of urinary bladder | NA | BeFree,GAD | Detail | |
| 0.123 | Bladder Neoplasm | NA | CTD_human,LHGDN | Detail | |
| 0.002 | Brain Neoplasms | NA | GAD | Detail | |
| 0.020 | Malignant neoplasm of breast | NA | BeFree,GAD | Detail | |
| 0.002 | calcinosis | NA | GAD | Detail | |
| <0.001 | Malignant tumor of colon | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of larynx | NA | BeFree | Detail | |
| 0.002 | basal cell carcinoma | NA | GAD | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Determination of gene expression and serum levels of MnSOD and GPX1 in colorectal cancer. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Association of Superoxide dismutases (SOD1 and SOD2) and Glutathione peroxidase 1 (GPx1) gene polymo... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Evaluation of some antioxidant enzyme activities (SOD and GPX) and their polymorphisms (MnSOD2 Ala9V... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Second, exogenously introduced RORα or CS treatment induced the mRNA level of antioxidant enzymes, s... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| GPX1 genotypes were not related to phenotypic manifestations of WD. | 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 |
| 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 |
| Evaluating the subgroup of 293 ICU patients with sepsis, a pooled analysis including two genetic var... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Likewise, the gene expression of oxidative defence enzymes superoxide dismutases (SOD1 and SOD2), ca... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| EGCG also differentially modulated the mRNA expressions of SIRT3-associated downstream targets inclu... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| EGCG also differentially modulated the mRNA expressions of SIRT3-associated downstream targets inclu... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Evaluating the subgroup of 293 ICU patients with sepsis, a pooled analysis including two genetic var... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Seven interactions were statistically significant after adjusting for multiple testing (FDR Q-value ... | 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 |
| The aim was to determine (a) Ala-16Val-SOD2 dimorphisms; (b) allelic frequency and phenotype of a co... | DisGeNET | Detail |
| Data from two population-based, case-control studies of lymphoma in the UK (700 cases and 915 contro... | DisGeNET | Detail |
| The aim was to determine (a) Ala-16Val-SOD2 dimorphisms; (b) allelic frequency and phenotype of a co... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We evaluated potential associations between gene variants that result in reduced neutralization of r... | DisGeNET | Detail |
| We evaluated potential associations between gene variants that result in reduced neutralization of r... | 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 |
| Likewise, the gene expression of oxidative defence enzymes superoxide dismutases (SOD1 and SOD2), ca... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Determination of gene expression and serum levels of MnSOD and GPX1 in colorectal cancer. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We aimed to study 59 single nucleotide polymorphisms (SNPs) for GPX1-7 genes and to characterize the... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Seven interactions were statistically significant after adjusting for multiple testing (FDR Q-value ... | DisGeNET | Detail |
| RORα decreases oxidative stress through the induction of SOD2 and GPx1 expression and thereby protec... | 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 |
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
- rs386596107 dbSNP
- Genome
- hg19
- Position
- chr3:49,394,607-49,396,038
- Variant Type
- snv
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