chr8:42546711:A>G Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:42,546,711-42,546,711 |
| hg38 | chr8:42,691,568-42,691,568 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:0.857 | |
| 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 |
|---|---|---|---|---|---|
| 0.002 | Tobacco use disorder | [Daily cigarette consumption and the Fagerstrom Test for Cigarette Dependence sh... | GAD | 22524403 | Detail |
| <0.001 | cannabis abuse | Rs16969968 in CHRNA5 (and its proxy, rs1051730 in CHRNA3) and rs1451240, a proxy... | BeFree | 25770649 | Detail |
| <0.001 | cannabis abuse | Rs16969968 in CHRNA5 (and its proxy, rs1051730 in CHRNA3) and rs1451240, a proxy... | BeFree | 25770649 | Detail |
| <0.001 | cannabis abuse | Rs16969968 in CHRNA5 (and its proxy, rs1051730 in CHRNA3) and rs1451240, a proxy... | BeFree | 25770649 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| [Daily cigarette consumption and the Fagerstrom Test for Cigarette Dependence show different associa... | DisGeNET | Detail |
| Rs16969968 in CHRNA5 (and its proxy, rs1051730 in CHRNA3) and rs1451240, a proxy for rs13280604 in C... | DisGeNET | Detail |
| Rs16969968 in CHRNA5 (and its proxy, rs1051730 in CHRNA3) and rs1451240, a proxy for rs13280604 in C... | DisGeNET | Detail |
| Rs16969968 in CHRNA5 (and its proxy, rs1051730 in CHRNA3) and rs1451240, a proxy for rs13280604 in C... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs1451240 dbSNP
- Genome
- hg19
- Position
- chr8:42,546,711-42,546,711
- 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))
- rs1451240
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8573
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 14369
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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