chr17:63473168:C>T Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:61,550,529-61,550,529 View the variant detail on this assembly version. |
| hg38 | chr17:63,473,168-63,473,168 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.639 | |
| 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 | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.203 | Kidney Diseases | We investigated the association of three ACE gene variants with DN, rs1799752 in... | BeFree | 19787680 | Detail |
| 0.200 | Impaired cognition | At the level of genotypic association, we confirmed that the APOE ε4 homozygote ... | BeFree | 24863667 | Detail |
| 0.008 | Impaired cognition | At the level of genotypic association, we confirmed that the APOE ε4 homozygote ... | BeFree | 24863667 | Detail |
| <0.001 | Kidney Diseases | In addition, homozygosity for the common haplotype TIC (which corresponded to th... | BeFree | 15793268 | Detail |
| <0.001 | Microalbuminuria | In addition, homozygosity for the common haplotype TIC (which corresponded to th... | BeFree | 15793268 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We investigated the association of three ACE gene variants with DN, rs1799752 insertion/deletion (I/... | DisGeNET | Detail |
| At the level of genotypic association, we confirmed that the APOE ε4 homozygote significantly accele... | DisGeNET | Detail |
| At the level of genotypic association, we confirmed that the APOE ε4 homozygote significantly accele... | DisGeNET | Detail |
| In addition, homozygosity for the common haplotype TIC (which corresponded to the T, insertion, and ... | DisGeNET | Detail |
| In addition, homozygosity for the common haplotype TIC (which corresponded to the T, insertion, and ... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs1800764 dbSNP
- Genome
- hg38
- Position
- chr17:63,473,168-63,473,168
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs1800764
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6386
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10703
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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