chr19:40850474:A>C Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:41,356,379-41,356,379 View the variant detail on this assembly version. |
| hg38 | chr19:40,850,474-40,850,474 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.257 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.230 |
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 |
|---|---|---|---|---|---|
| 0.133 | nicotine dependence | The purpose of this study was to analyse the association of smoking status and s... | BeFree | 22046326 | Detail |
| <0.001 | nicotine dependence | The purpose of this study was to analyse the association of smoking status and s... | BeFree | 22046326 | Detail |
| 0.020 | nicotine dependence | The purpose of this study was to analyse the association of smoking status and s... | BeFree | 22046326 | Detail |
| 0.003 | nicotine dependence | The purpose of this study was to analyse the association of smoking status and s... | BeFree | 22046326 | Detail |
| 0.002 | nicotine dependence | The purpose of this study was to analyse the association of smoking status and s... | BeFree | 22046326 | Detail |
| 0.001 | nicotine dependence | The purpose of this study was to analyse the association of smoking status and s... | BeFree | 22046326 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The purpose of this study was to analyse the association of smoking status and smoking-related pheno... | DisGeNET | Detail |
| The purpose of this study was to analyse the association of smoking status and smoking-related pheno... | DisGeNET | Detail |
| The purpose of this study was to analyse the association of smoking status and smoking-related pheno... | DisGeNET | Detail |
| The purpose of this study was to analyse the association of smoking status and smoking-related pheno... | DisGeNET | Detail |
| The purpose of this study was to analyse the association of smoking status and smoking-related pheno... | DisGeNET | Detail |
| The purpose of this study was to analyse the association of smoking status and smoking-related pheno... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs28399433 dbSNP
- Genome
- hg38
- Position
- chr19:40,850,474-40,850,474
- Variant Type
- snv
- Reference Allele
- A
- 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))
- rs28399433
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2568
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4109
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 15998
- East Asian Chromosome Counts (ExAC)
- 8038
- East Asian Allele Counts (ExAC)
- 1850
- East Asian Heterozygous Counts (ExAC)
- 1226
- East Asian Homozygous Counts (ExAC)
- 312
- East Asian Allele Frequency (ExAC)
- 0.23015675541179398
- Chromosome Counts in All Race (ExAC)
- 113900
- Allele Counts in All Race (ExAC)
- 11280
- Heterozygous Counts in All Race (ExAC)
- 9328
- Homozygous Counts in All Race (ExAC)
- 976
- Allele Frequency in All Race (ExAC)
- 0.0990342405618964
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