chr19:45408836:T>G Detail (hg19) (APOE)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:45,408,836-45,408,836 |
| hg38 | chr19:44,905,579-44,905,579 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:0.305 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
drug response
|
| Review star |  |
| Show details | |
Links
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
not provided
|
Alzheimer disease |
not provided
|
MGS000015
(TMGS000120) |
Hiroshi Mori | Osaka City University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
drug response
|
2010-08-31 | no assertion criteria provided |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.207 | arteriosclerosis | This association is biologically plausible as SNP rs405509 was shown to modify p... | BeFree | 19808960 | Detail |
| 0.340 | myocardial infarction | NA | CLINVAR | Detail | |
| 0.302 | atherosclerosis | This association is biologically plausible as SNP rs405509 was shown to modify p... | BeFree | 19808960 | Detail |
| 0.120 | Coronary artery disease, severe, susceptibility to | NA | CLINVAR | Detail | |
| 0.002 | Chronic Kidney Diseases | Subsequent multivariable logistic regression analysis with adjustment for covari... | BeFree | 19282863 | Detail |
| <0.001 | Chronic Kidney Diseases | Subsequent multivariable logistic regression analysis with adjustment for covari... | BeFree | 19282863 | Detail |
| <0.001 | Chronic Kidney Diseases | Subsequent multivariable logistic regression analysis with adjustment for covari... | BeFree | 19282863 | Detail |
| <0.001 | Chronic Kidney Diseases | Subsequent multivariable logistic regression analysis with adjustment for covari... | BeFree | 19282863 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_000019.10:g.44905579T>G AND Warfarin response | ClinVar | Detail |
| This association is biologically plausible as SNP rs405509 was shown to modify protein binding and t... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This association is biologically plausible as SNP rs405509 was shown to modify protein binding and t... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Subsequent multivariable logistic regression analysis with adjustment for covariates as well as a st... | DisGeNET | Detail |
| Subsequent multivariable logistic regression analysis with adjustment for covariates as well as a st... | DisGeNET | Detail |
| Subsequent multivariable logistic regression analysis with adjustment for covariates as well as a st... | DisGeNET | Detail |
| Subsequent multivariable logistic regression analysis with adjustment for covariates as well as a st... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs405509 dbSNP
- Genome
- hg19
- Position
- chr19:45,408,836-45,408,836
- Variant Type
- snv
- Reference Allele
- T
- 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))
- rs405509
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3047
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5106
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser