chr19:45403084:>T Detail (hg19) (TOMM40)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:45,403,084-45,403,084 |
| hg38 | chr19:44,899,827-44,899,827 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006114.2:c.644-904_644-903insT | |
| NM_001128916.1:c.644-904_644-903insT | ||
| NM_001128917.1:c.644-904_644-903insT |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.017 | |
| 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 | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.001 | Alzheimer Disease, Late Onset | We conclude that the poly-T repeat associations of rs10524523 in TOMM40 reflect ... | BeFree | 25500937 | Detail |
| 0.019 | Alzheimer Disease, Late Onset | We conclude that the poly-T repeat associations of rs10524523 in TOMM40 reflect ... | BeFree | 25500937 | Detail |
| <0.001 | Diabetes Mellitus, Non-Insulin-Dependent | The TOMM40 poly-T rs10524523 variant is associated with cognitive performance am... | BeFree | 25044051 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We conclude that the poly-T repeat associations of rs10524523 in TOMM40 reflect the APOE ε4-dependen... | DisGeNET | Detail |
| We conclude that the poly-T repeat associations of rs10524523 in TOMM40 reflect the APOE ε4-dependen... | DisGeNET | Detail |
| The TOMM40 poly-T rs10524523 variant is associated with cognitive performance among non-demented eld... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg19
- Position
- chr19:45,403,084-45,403,084
- Variant Type
- snv
- Reference Allele
- -
- Alternative Allele
- T
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0171
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 265
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 15518
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