chr8:27598736:T>C Detail (hg38) (CLU)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:27,456,253-27,456,253 View the variant detail on this assembly version. |
| hg38 | chr8:27,598,736-27,598,736 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001831.3:c.1165-101A>G | |
| NR_045494.1:c.1165-101A>G | ||
| NR_038335.1:c.1165-101A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.750 | |
| 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 |
|---|---|---|---|---|---|
| 0.287 | Alzheimer's disease | CLU rs2279590 polymorphism contributes to Alzheimer's disease susceptibility in ... | BeFree | 24947876 | Detail |
| 0.287 | Alzheimer's disease | Genome-wide association study identifies variants at CLU and CR1 associated with... | GWASCAT | 19734903 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| CLU rs2279590 polymorphism contributes to Alzheimer's disease susceptibility in Caucasian and Asian ... | DisGeNET | Detail |
| Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2279590 dbSNP
- Genome
- hg38
- Position
- chr8:27,598,736-27,598,736
- 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))
- rs2279590
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.75
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12570
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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