chr4:24795573:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:24,797,195-24,802,464 |
| hg38 | chr4:24,795,573-24,800,842 |
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 | pancreatic carcinoma | According to the assumption that genetic variation in carcinogen metabolism furt... | BeFree | 20966810 | Detail |
| <0.001 | Malignant neoplasm of pancreas | According to the assumption that genetic variation in carcinogen metabolism furt... | BeFree | 20966810 | Detail |
| 0.006 | Cardiovascular Diseases | Substitution of arginine by glycine at amino acid 213 (R213G) of its HBD was fir... | BeFree,GAD,LHGDN | 25927599 | Detail |
| 0.003 | cerebral infarction | NA | BeFree,GAD | Detail | |
| 0.002 | chorioamnionitis | NA | GAD | Detail | |
| <0.001 | Coronary Arteriosclerosis | NA | BeFree | Detail | |
| <0.001 | Coronary heart disease | NA | BeFree | Detail | |
| <0.001 | dermatitis | NA | BeFree | Detail | |
| 0.120 | contact dermatitis | NA | CTD_human | Detail | |
| 0.002 | diabetes mellitus | NA | GAD | Detail | |
| 0.006 | Diabetes Mellitus, Non-Insulin-Dependent | Plasma extracellular superoxide dismutase concentration, allelic variations in t... | BeFree,GAD,LHGDN | 25855220 | Detail |
| 0.002 | Diabetic Neuropathies | NA | GAD | Detail | |
| 0.002 | Fetal Growth Retardation | NA | GAD | Detail | |
| 0.002 | Fetal Membranes, Premature Rupture | NA | GAD | Detail | |
| <0.001 | Glioma | NA | BeFree | Detail | |
| <0.001 | goiter | NA | BeFree | Detail | |
| 0.120 | Heart failure | NA | CTD_human | Detail | |
| <0.001 | Atrial Septal Defects | NA | BeFree | Detail | |
| 0.213 | Hypertensive disease | NA | BeFree,CTD_human,GAD,LHGDN,RGD | Detail | |
| <0.001 | pulmonary hypertension | NA | BeFree | Detail | |
| <0.001 | male infertility | NA | BeFree | Detail | |
| <0.001 | ischemia | This study newly demonstrates that APCs are endowed with enhanced detoxifier and... | BeFree | 24512058 | Detail |
| 0.003 | keratoconus | NA | LHGDN | Detail | |
| 0.002 | Premature Obstetric Labor | NA | GAD | Detail | |
| <0.001 | Leukomalacia, Periventricular | NA | BeFree | Detail | |
| 0.138 | Chronic Obstructive Airway Disease | NA | BeFree,CTD_human,GAD,LHGDN | Detail | |
| 0.002 | Lymphoma, Non-Hodgkin | NA | GAD | Detail | |
| <0.001 | malaria | The results also indicated that polymorphisms present in GSTP1, SOD1 and CAT gen... | BeFree | 25573779 | Detail |
| 0.003 | myocardial infarction | Plasma extracellular superoxide dismutase concentration, allelic variations in t... | BeFree,GAD | 25855220 | Detail |
| 0.120 | Necrosis | NA | CTD_human | Detail | |
| 0.002 | Occupational Diseases | NA | GAD | Detail | |
| <0.001 | Parkinson disease | We also showed that the enhancement of oxidative stress tolerance and an up-regu... | BeFree | 25874922 | Detail |
| 0.120 | Peripheral neuropathy | NA | CTD_human | Detail | |
| 0.005 | pre-eclampsia | NA | GAD | Detail | |
| <0.001 | pulmonary emphysema | NA | BeFree | Detail | |
| <0.001 | retinitis pigmentosa | NA | BeFree | Detail | |
| <0.001 | vitiligo | NA | BeFree | Detail | |
| 0.120 | diffuse large B-cell lymphoma | NA | CTD_human | Detail | |
| 0.003 | Bronchial Hyperreactivity | NA | BeFree,GAD | Detail | |
| <0.001 | essential hypertension | NA | BeFree | Detail | |
| 0.002 | Premature Birth | NA | GAD | Detail | |
| 0.083 | Myocardial Ischemia | Substitution of arginine by glycine at amino acid 213 (R213G) of its HBD was fir... | BeFree,LHGDN,RGD | 25927599 | Detail |
| <0.001 | Premature aging syndrome | SOD3 Variant, R213G, Altered SOD3 Function, Leading to ROS-Mediated Inflammation... | BeFree | 25927599 | Detail |
| <0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| 0.007 | Malignant neoplasm of lung | NA | GAD | Detail | |
| 0.002 | Acute Lung Injury | NA | GAD | Detail | |
| 0.002 | Oxidative Stress | NA | GAD | Detail | |
| 0.120 | Disease Progression | NA | CTD_human | Detail | |
| 0.003 | Diabetic Polyneuropathies | NA | BeFree,GAD | Detail | |
| <0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| 0.006 | Malignant neoplasm of prostate | NA | BeFree,GAD | Detail | |
| <0.001 | Thyroid carcinoma | NA | BeFree | Detail | |
| <0.001 | Aqueous Humor Disorders | NA | BeFree | Detail | |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| 0.001 | prostate carcinoma | NA | BeFree | Detail | |
| 0.120 | Drug-Induced Liver Injury | NA | CTD_human | Detail | |
| <0.001 | Arthritis, Collagen-Induced | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of ovary | NA | GAD | Detail | |
| <0.001 | Degenerative disorder | These findings showed for the first time that arginine 213 in the HBD of SOD3 is... | BeFree | 25927599 | Detail |
| <0.001 | Malignant neoplasm of breast | The gene-gene interactions demonstrated a significant four-variant interaction a... | BeFree | 25416100 | Detail |
| <0.001 | breast carcinoma | The gene-gene interactions demonstrated a significant four-variant interaction a... | BeFree | 25416100 | Detail |
| 0.003 | Idiopathic Pulmonary Fibrosis | NA | LHGDN | Detail | |
| <0.001 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | NA | BeFree | Detail | |
| <0.001 | AMYOTROPHIC LATERAL SCLEROSIS 1 | NA | BeFree | Detail | |
| 0.003 | coronary artery disease | NA | BeFree,GAD | Detail | |
| 0.002 | Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified | NA | GAD | Detail | |
| 0.003 | Anoxia | NA | LHGDN | Detail | |
| 0.003 | rheumatoid arthritis | NA | BeFree,GAD | Detail | |
| 0.003 | asbestosis | NA | BeFree,GAD | Detail | |
| 0.005 | atherosclerosis | NA | GAD | Detail | |
| 0.002 | Malignant neoplasm of urinary bladder | NA | GAD | Detail | |
| 0.005 | Brain Neoplasms | NA | GAD,LHGDN | Detail | |
| <0.001 | Malignant neoplasm of thyroid | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| According to the assumption that genetic variation in carcinogen metabolism further modifies the ris... | DisGeNET | Detail |
| According to the assumption that genetic variation in carcinogen metabolism further modifies the ris... | DisGeNET | Detail |
| Substitution of arginine by glycine at amino acid 213 (R213G) of its HBD was first identified in pat... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Plasma extracellular superoxide dismutase concentration, allelic variations in the SOD3 gene and ris... | 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 |
| This study newly demonstrates that APCs are endowed with enhanced detoxifier and antioxidant systems... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The results also indicated that polymorphisms present in GSTP1, SOD1 and CAT genes may be associated... | DisGeNET | Detail |
| Plasma extracellular superoxide dismutase concentration, allelic variations in the SOD3 gene and ris... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We also showed that the enhancement of oxidative stress tolerance and an up-regulation of the stress... | 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 |
| Substitution of arginine by glycine at amino acid 213 (R213G) of its HBD was first identified in pat... | DisGeNET | Detail |
| SOD3 Variant, R213G, Altered SOD3 Function, Leading to ROS-Mediated Inflammation and Damage in Multi... | 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 |
| These findings showed for the first time that arginine 213 in the HBD of SOD3 is critical for mainta... | DisGeNET | Detail |
| The gene-gene interactions demonstrated a significant four-variant interaction among rs406113 (GPX6)... | DisGeNET | Detail |
| The gene-gene interactions demonstrated a significant four-variant interaction among rs406113 (GPX6)... | 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
- rs105213 dbSNP
- Genome
- hg38
- Position
- chr4:24,795,573-24,800,842
- Variant Type
- snv
Genome browser