chr10:60325579:T>C Detail (hg38) (ANK3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:62,085,337-62,085,337 View the variant detail on this assembly version. |
| hg38 | chr10:60,325,579-60,325,579 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001320874.1:c.115-45940A>G | |
| NM_020987.4:c.115-45940A>G | ||
| NM_001204403.1:c.97-45940A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.755 | |
| 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 |
|---|---|---|---|---|---|
| 0.266 | bipolar disorder | Due to evidence of genetic overlap between schizophrenia and BD, we investigated... | BeFree | 23109352 | Detail |
| <0.001 | Unipolar Depression | We genotyped three single nucleotide polymorphisms (SNPs) in ANK3 (rs9804190, rs... | BeFree | 21702894 | Detail |
| 0.129 | schizophrenia | [The association of ANK3 with schizophrenia is intriguing in light of recent ass... | GAD | 20185149 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Due to evidence of genetic overlap between schizophrenia and BD, we investigated common findings by ... | DisGeNET | Detail |
| We genotyped three single nucleotide polymorphisms (SNPs) in ANK3 (rs9804190, rs10994336, and rs1076... | DisGeNET | Detail |
| [The association of ANK3 with schizophrenia is intriguing in light of recent associations of ANK3 wi... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs10761482 dbSNP
- Genome
- hg38
- Position
- chr10:60,325,579-60,325,579
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- 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))
- rs10761482
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7548
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12650
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser