chr12:111766623:A>G Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:112,204,427-112,204,427 View the variant detail on this assembly version. |
| hg38 | chr12:111,766,623-111,766,623 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.787 | |
| 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 |
|---|---|---|---|---|---|
| 0.006 | diabetes mellitus | Significant interactions were observed between alcohol and ADH1b (rs1229984) wit... | BeFree | 20700531 | Detail |
| 0.001 | Diabetes | Significant interactions were observed between alcohol and ADH1b (rs1229984) wit... | BeFree | 20700531 | Detail |
| <0.001 | Impaired glucose tolerance | Significant interactions were observed between alcohol and ADH1b (rs1229984) wit... | BeFree | 20700531 | Detail |
| <0.001 | Impaired glucose tolerance | Significant interactions were observed between alcohol and ADH1b (rs1229984) wit... | BeFree | 20700531 | Detail |
| 0.004 | diabetes mellitus | Significant interactions were observed between alcohol and ADH1b (rs1229984) wit... | BeFree | 20700531 | Detail |
| 0.001 | Diabetes | Significant interactions were observed between alcohol and ADH1b (rs1229984) wit... | BeFree | 20700531 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Significant interactions were observed between alcohol and ADH1b (rs1229984) with respect to LDL and... | DisGeNET | Detail |
| Significant interactions were observed between alcohol and ADH1b (rs1229984) with respect to LDL and... | DisGeNET | Detail |
| Significant interactions were observed between alcohol and ADH1b (rs1229984) with respect to LDL and... | DisGeNET | Detail |
| Significant interactions were observed between alcohol and ADH1b (rs1229984) with respect to LDL and... | DisGeNET | Detail |
| Significant interactions were observed between alcohol and ADH1b (rs1229984) with respect to LDL and... | DisGeNET | Detail |
| Significant interactions were observed between alcohol and ADH1b (rs1229984) with respect to LDL and... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs886205 dbSNP
- Genome
- hg38
- Position
- chr12:111,766,623-111,766,623
- 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))
- rs886205
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7867
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 13180
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16754
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