chr2:100977729:C>T Detail (hg38) (NPAS2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:101,594,191-101,594,191 View the variant detail on this assembly version. |
| hg38 | chr2:100,977,729-100,977,729 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002518.3:c.1412C>T | NP_002509.2:p.Ser471Leu |
| Ensemble | ENST00000335681.10:c.1412C>T | ENST00000335681.10:p.Ser471Leu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.015 | bipolar disorder | The findings that have gained support indicate that genetic variants of RORA (rs... | BeFree | 22538398 | Detail |
| 0.005 | bipolar disorder | The findings that have gained support indicate that genetic variants of RORA (rs... | BeFree | 22538398 | Detail |
| <0.001 | seasonal affective disorder | The findings that have gained support indicate that genetic variants of RORA (rs... | BeFree | 22538398 | Detail |
| 0.001 | winter depression | The findings that have gained support indicate that genetic variants of RORA (rs... | BeFree | 22538398 | Detail |
| <0.001 | depressive disorder | The findings that have gained support indicate that genetic variants of RORA (rs... | BeFree | 22538398 | Detail |
| 0.008 | bipolar disorder | The findings that have gained support indicate that genetic variants of RORA (rs... | BeFree | 22538398 | Detail |
| 0.004 | seasonal affective disorder | The findings that have gained support indicate that genetic variants of RORA (rs... | BeFree | 22538398 | Detail |
| <0.001 | depressive disorder | The findings that have gained support indicate that genetic variants of RORA (rs... | BeFree | 22538398 | Detail |
| <0.001 | seasonal affective disorder | The findings that have gained support indicate that genetic variants of RORA (rs... | BeFree | 22538398 | Detail |
| <0.001 | winter depression | The findings that have gained support indicate that genetic variants of RORA (rs... | BeFree | 22538398 | Detail |
| <0.001 | winter depression | The findings that have gained support indicate that genetic variants of RORA (rs... | BeFree | 22538398 | Detail |
| 0.006 | bipolar disorder | The findings that have gained support indicate that genetic variants of RORA (rs... | BeFree | 22538398 | Detail |
| <0.001 | winter depression | The findings that have gained support indicate that genetic variants of RORA (rs... | BeFree | 22538398 | Detail |
| <0.001 | winter depression | The findings that have gained support indicate that genetic variants of RORA (rs... | BeFree | 22538398 | Detail |
| <0.001 | winter depression | The findings that have gained support indicate that genetic variants of RORA (rs... | BeFree | 22538398 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... | DisGeNET | Detail |
| The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... | DisGeNET | Detail |
| The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... | DisGeNET | Detail |
| The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... | DisGeNET | Detail |
| The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... | DisGeNET | Detail |
| The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... | DisGeNET | Detail |
| The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... | DisGeNET | Detail |
| The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... | DisGeNET | Detail |
| The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... | DisGeNET | Detail |
| The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... | DisGeNET | Detail |
| The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... | DisGeNET | Detail |
| The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... | DisGeNET | Detail |
| The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... | DisGeNET | Detail |
| The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... | DisGeNET | Detail |
| The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... | 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
- -
- Genome
- hg38
- Position
- chr2:100,977,729-100,977,729
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8638
- East Asian Allele Counts (ExAC)
- 6
- East Asian Heterozygous Counts (ExAC)
- 6
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 6.946052326927529E-4
- Chromosome Counts in All Race (ExAC)
- 121284
- Allele Counts in All Race (ExAC)
- 16555
- Heterozygous Counts in All Race (ExAC)
- 13813
- Homozygous Counts in All Race (ExAC)
- 1371
- Allele Frequency in All Race (ExAC)
- 0.13649780680056725
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