chr11:45870177:A>G Detail (hg19) (CRY2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:45,870,177-45,870,177 |
| hg38 | chr11:45,848,626-45,848,626 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_021117.3:c.278+921A>G | |
| NM_001127457.2:c.32+1345A>G | ||
| Ensemble | ENST00000616623.4:c.278+921A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.174 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
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
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs10838524 dbSNP
- Genome
- hg19
- Position
- chr11:45,870,177-45,870,177
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs10838524
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.174
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2916
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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