chr2:107986523:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:108,602,979-108,630,450 |
| hg38 | chr2:107,986,523-108,013,994 |
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 | Degenerative polyarthritis | Thus, we analyze the expression of members of the organic cation transporter (OC... | BeFree | 25418136 | Detail |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| <0.001 | Depressive Symptoms | NA | BeFree | Detail | |
| <0.001 | Angelman syndrome | NA | BeFree | Detail | |
| <0.001 | Recurrent depression | NA | BeFree | Detail | |
| <0.001 | Mood Disorders | NA | BeFree | Detail | |
| <0.001 | Recurrent depression | MPT analyses show significant associations of the norepinephrine transporter (NE... | BeFree | 18081710 | Detail |
| 0.120 | Neuropathy, Distal Hereditary Motor, Type VIIA | NA | CLINVAR | Detail | |
| <0.001 | rheumatoid arthritis | Thus, we analyze the expression of members of the organic cation transporter (OC... | BeFree | 25418136 | Detail |
| 0.080 | asthma | NA | RGD | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Thus, we analyze the expression of members of the organic cation transporter (OCT), of the newly dis... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| MPT analyses show significant associations of the norepinephrine transporter (NET, SLC6A2) -182 T/C ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Thus, we analyze the expression of members of the organic cation transporter (OCT), of the newly dis... | 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
- rs386510249 dbSNP
- Genome
- hg38
- Position
- chr2:107,986,523-108,013,994
- Variant Type
- snv
Genome browser