chr15:62433962:A>G Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:62,433,962-62,433,962 |
| hg38 | chr15:62,141,763-62,141,763 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.286 | |
| 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 |
|---|---|---|---|---|---|
| <0.001 | Cardiovascular Diseases | GCKR rs780094 (1.076, 1.010-1.146, P = 0.0229), C2CD4B rs11071657 (1.067, 1.003-... | BeFree | 23185617 | Detail |
| <0.001 | Cardiovascular Diseases | GCKR rs780094 (1.076, 1.010-1.146, P = 0.0229), C2CD4B rs11071657 (1.067, 1.003-... | BeFree | 23185617 | Detail |
| 0.127 | Cardiovascular Diseases | GCKR rs780094 (1.076, 1.010-1.146, P = 0.0229), C2CD4B rs11071657 (1.067, 1.003-... | BeFree | 23185617 | Detail |
| <0.001 | diabetes mellitus | In the Danish MONICA study four gene variants were significantly associated with... | BeFree | 23185617 | Detail |
| 0.009 | diabetes mellitus | In the Danish MONICA study four gene variants were significantly associated with... | BeFree | 23185617 | Detail |
| <0.001 | diabetes mellitus | In the Danish MONICA study four gene variants were significantly associated with... | BeFree | 23185617 | Detail |
| <0.001 | Diabetes | In the Danish MONICA study four gene variants were significantly associated with... | BeFree | 23185617 | Detail |
| 0.002 | Diabetes | In the Danish MONICA study four gene variants were significantly associated with... | BeFree | 23185617 | Detail |
| <0.001 | Diabetes | In the Danish MONICA study four gene variants were significantly associated with... | BeFree | 23185617 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| GCKR rs780094 (1.076, 1.010-1.146, P = 0.0229), C2CD4B rs11071657 (1.067, 1.003-1.135, P = 0.0385) a... | DisGeNET | Detail |
| GCKR rs780094 (1.076, 1.010-1.146, P = 0.0229), C2CD4B rs11071657 (1.067, 1.003-1.135, P = 0.0385) a... | DisGeNET | Detail |
| GCKR rs780094 (1.076, 1.010-1.146, P = 0.0229), C2CD4B rs11071657 (1.067, 1.003-1.135, P = 0.0385) a... | DisGeNET | Detail |
| In the Danish MONICA study four gene variants were significantly associated with incident CVD indepe... | DisGeNET | Detail |
| In the Danish MONICA study four gene variants were significantly associated with incident CVD indepe... | DisGeNET | Detail |
| In the Danish MONICA study four gene variants were significantly associated with incident CVD indepe... | DisGeNET | Detail |
| In the Danish MONICA study four gene variants were significantly associated with incident CVD indepe... | DisGeNET | Detail |
| In the Danish MONICA study four gene variants were significantly associated with incident CVD indepe... | DisGeNET | Detail |
| In the Danish MONICA study four gene variants were significantly associated with incident CVD indepe... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs11071657 dbSNP
- Genome
- hg19
- Position
- chr15:62,433,962-62,433,962
- 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))
- rs11071657
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2864
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4800
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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