chr11:18047335:T>C Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:18,068,882-18,068,882 View the variant detail on this assembly version. |
| hg38 | chr11:18,047,335-18,047,335 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.163 | |
| 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 | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.017 | Mood Disorders | Three hundred and ninety-eight patients diagnosed with mood disorders were genot... | BeFree | 21989108 | Detail |
| 0.002 | Mental disorders | Three hundred and ninety-eight patients diagnosed with mood disorders were genot... | BeFree | 21989108 | Detail |
| 0.001 | Ichthyosis bullosa of Siemens | However, TPH1 gene SNPs were associated with IBS-related cognitions (rs4537731 a... | BeFree | 23172723 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Three hundred and ninety-eight patients diagnosed with mood disorders were genotyped for TPH1 G-6526... | DisGeNET | Detail |
| Three hundred and ninety-eight patients diagnosed with mood disorders were genotyped for TPH1 G-6526... | DisGeNET | Detail |
| However, TPH1 gene SNPs were associated with IBS-related cognitions (rs4537731 and rs21105) and qual... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs4537731 dbSNP
- Genome
- hg38
- Position
- chr11:18,047,335-18,047,335
- 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))
- rs4537731
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1633
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2736
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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