chr6:41187288:G>C Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:41,155,026-41,155,026 View the variant detail on this assembly version. |
| hg38 | chr6:41,187,288-41,187,288 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.290 | |
| 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 |
|---|---|---|---|---|---|
| <0.001 | Hypertensive disease | Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs20... | BeFree | 24142389 | Detail |
| <0.001 | Hypertensive disease | Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs20... | BeFree | 24142389 | Detail |
| <0.001 | Hypertensive disease | Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs20... | BeFree | 24142389 | Detail |
| 0.120 | Hypertensive disease | Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs20... | BeFree | 24142389 | Detail |
| 0.333 | Hypertensive disease | Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs20... | BeFree | 24142389 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs2072134 (OAS3), rs2093... | DisGeNET | Detail |
| Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs2072134 (OAS3), rs2093... | DisGeNET | Detail |
| Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs2072134 (OAS3), rs2093... | DisGeNET | Detail |
| Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs2072134 (OAS3), rs2093... | DisGeNET | Detail |
| Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs2072134 (OAS3), rs2093... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs2093395 dbSNP
- Genome
- hg38
- Position
- chr6:41,187,288-41,187,288
- Variant Type
- snv
- Reference Allele
- G
- 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))
- rs2093395
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2898
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4857
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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