chr3:12045862:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:12,045,862-12,233,532 |
| hg38 | chr3:12,004,388-12,192,032 |
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 |
|---|---|---|---|---|---|
| 0.002 | Diabetes Mellitus, Non-Insulin-Dependent | NA | GAD | Detail | |
| 0.120 | Hyperalgesia | NA | CTD_human | Detail | |
| <0.001 | hairy cell leukemia | NA | BeFree | Detail | |
| 0.135 | schizophrenia | NA | BeFree,CTD_human,GAD,LHGDN | Detail | |
| 0.122 | Seizures | NA | CTD_human,GAD | Detail | |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| <0.001 | urticaria | NA | BeFree | Detail | |
| <0.001 | Welts | NA | BeFree | Detail | |
| <0.001 | idiopathic generalized epilepsy | Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene pol... | BeFree | 25088614 | Detail |
| <0.001 | idiopathic generalized epilepsy | Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene ... | BeFree | 25088614 | Detail |
| 0.003 | idiopathic epilepsy | NA | BeFree,GAD | Detail | |
| <0.001 | Alcoholic Intoxication, Chronic | NA | BeFree | Detail | |
| <0.001 | Alzheimer's disease | NA | BeFree | Detail | |
| 0.080 | autistic disorder | NA | BeFree,MGD | Detail | |
| <0.001 | bipolar disorder | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | 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 GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with the ... | DisGeNET | Detail |
| Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with t... | 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
- rs37733634 dbSNP
- Genome
- hg19
- Position
- chr3:12,045,862-12,233,532
- Variant Type
- snv
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