chr19:45414451:T>C Detail (hg19) (APOE)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:45,414,451-45,414,451 |
| hg38 | chr19:44,911,194-44,911,194 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:0.405 | |
| 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 | ||||
|
not provided
|
mild cognitive impairment |
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 |
|---|---|---|---|---|---|
| 0.003 | schizophrenia | HIMS replication analysis supported rs439401 (APOE regulatory region), and rs229... | BeFree | 22419519 | Detail |
| 0.440 | Alzheimer's disease | [In addition to known candidate genes, APOE, TOMM40, and one hypothetical gene L... | GAD | 21123754 | Detail |
| 0.243 | Cardiovascular Diseases | Thus, in a population of stressed and non-stressed Danish men, we examined wheth... | BeFree | 21283811 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_000019.10:g.44911194T>C AND Warfarin response | ClinVar | Detail |
| HIMS replication analysis supported rs439401 (APOE regulatory region), and rs2297660 and rs3737983 (... | DisGeNET | Detail |
| [In addition to known candidate genes, APOE, TOMM40, and one hypothetical gene LOC100129500 partiall... | DisGeNET | Detail |
| Thus, in a population of stressed and non-stressed Danish men, we examined whether associations betw... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs439401 dbSNP
- Genome
- hg19
- Position
- chr19:45,414,451-45,414,451
- Variant Type
- snv
- Reference Allele
- T
- 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))
- rs439401
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4045
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6779
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
Genome browser