chr1:114673098:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:115,215,719-115,238,239 |
| hg38 | chr1:114,673,098-114,695,618 |
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 |
|---|---|---|---|---|---|
| 0.003 | Cardiovascular Diseases | NA | BeFree,GAD | Detail | |
| <0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| 0.002 | Coronary Arteriosclerosis | NA | BeFree | Detail | |
| 0.004 | Coronary heart disease | NA | BeFree,LHGDN | Detail | |
| <0.001 | Diabetes | NA | BeFree | Detail | |
| <0.001 | diabetes mellitus | NA | BeFree | Detail | |
| <0.001 | Fatty Liver | NA | BeFree | Detail | |
| <0.001 | Glioma | NA | BeFree | Detail | |
| 0.005 | Glycogen Storage Disease Type V | NA | BeFree,GAD | Detail | |
| <0.001 | Heart Diseases | NA | BeFree | Detail | |
| 0.010 | Heart failure | NA | BeFree,GAD,LHGDN | Detail | |
| 0.006 | congestive heart failure | NA | BeFree,GAD | Detail | |
| <0.001 | hepatitis C | NA | BeFree | Detail | |
| <0.001 | Hodgkin Disease | NA | BeFree | Detail | |
| <0.001 | ischemia | NA | BeFree | Detail | |
| <0.001 | chronic lymphocytic leukemia | NA | BeFree | Detail | |
| <0.001 | Liver neoplasms | NA | BeFree | Detail | |
| <0.001 | malaria | Overall, a greater prevalence of MAD 20 alleles and increased serum TNF-α and CX... | BeFree | 24681005 | Detail |
| <0.001 | Malaria, Falciparum | MAD 20 alleles of merozoite surface protein-1 (msp-1) are associated with severe... | BeFree | 24681005 | Detail |
| 0.120 | muscular atrophy | NA | CTD_human | Detail | |
| 0.123 | myopathy | NA | BeFree,CTD_human,GAD | Detail | |
| <0.001 | myocardial infarction | NA | BeFree | Detail | |
| 0.002 | Neuromuscular Diseases | NA | GAD | Detail | |
| <0.001 | obesity | NA | BeFree | Detail | |
| <0.001 | Personality Disorders | NA | BeFree | Detail | |
| 0.003 | colorectal cancer | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... | BeFree | 18619730 | Detail |
| <0.001 | colorectal carcinoma | Ten non-synonymous single nucleotide polymorphisms (nsSNPs), which were recently... | BeFree | 18619730 | Detail |
| <0.001 | seasonal affective disorder | NA | BeFree | Detail | |
| 0.001 | Myocardial Ischemia | NA | BeFree | Detail | |
| 0.120 | Muscle Weakness | NA | BeFree,CTD_human | Detail | |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| <0.001 | Myalgia | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of lung | NA | BeFree | Detail | |
| 0.005 | Ventricular Dysfunction, Left | NA | GAD,LHGDN | Detail | |
| <0.001 | Sepsis | NA | BeFree | Detail | |
| <0.001 | Acute heart failure | NA | BeFree | Detail | |
| <0.001 | Chronic heart failure | NA | BeFree | Detail | |
| <0.001 | Metabolic myopathy | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma Of Esophagus | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of prostate | NA | BeFree | Detail | |
| 0.003 | Metabolic syndrome X | NA | BeFree,GAD | Detail | |
| <0.001 | Hepatitis C, Chronic | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of esophagus | NA | BeFree | Detail | |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | prostate carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | Post MI | NA | BeFree | Detail | |
| <0.001 | Left ventricular systolic dysfunction | NA | BeFree | Detail | |
| <0.001 | Cardiomyopathy, Familial Idiopathic | NA | BeFree | Detail | |
| 0.003 | colorectal cancer | NA | BeFree,GAD | Detail | |
| 0.007 | coronary artery disease | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | liver carcinoma | NA | BeFree | Detail | |
| 0.240 | Adenosine monophosphate deaminase deficiency | NA | CTD_human,ORPHANET | Detail | |
| 0.120 | MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY | NA | UNIPROT | Detail | |
| <0.001 | adenocarcinoma | NA | BeFree | Detail | |
| 0.002 | anemia | NA | GAD | Detail | |
| 0.010 | rheumatoid arthritis | NA | GAD,LHGDN | Detail | |
| <0.001 | Astrocytoma | NA | BeFree | Detail | |
| 0.002 | atherosclerosis | NA | GAD | Detail | |
| 0.120 | autistic disorder | NA | GWASCAT | Detail | |
| 0.002 | Brain Death | NA | GAD | Detail | |
| <0.001 | renal cell carcinoma | NA | BeFree | Detail |
Annotation
Annotations
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
- rs386559608 dbSNP
- Genome
- hg38
- Position
- chr1:114,673,098-114,695,618
- Variant Type
- snv
Genome browser