chr11:71142350:T>C Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:71,142,350-71,142,350 |
| hg38 | chr11:71,431,304-71,431,304 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:0.357 | |
| 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 | Coronary heart disease | Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on... | BeFree | 24642724 | Detail |
| <0.001 | coronary artery disease | Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on... | BeFree | 24642724 | Detail |
| <0.001 | Cardiovascular Diseases | Recent genome-wide association studies have identified the rs1790349 and rs12785... | BeFree | 24642724 | Detail |
| <0.001 | Coronary Arteriosclerosis | Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on... | BeFree | 24642724 | Detail |
| <0.001 | Coronary heart disease | Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on... | BeFree | 24642724 | Detail |
| <0.001 | Coronary Arteriosclerosis | Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on... | BeFree | 24642724 | Detail |
| <0.001 | coronary artery disease | Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on... | BeFree | 24642724 | Detail |
| <0.001 | Cardiovascular Diseases | Recent genome-wide association studies have identified the rs1790349 and rs12785... | BeFree | 24642724 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on plasma 25-hydroxyvi... | DisGeNET | Detail |
| Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on plasma 25-hydroxyvi... | DisGeNET | Detail |
| Recent genome-wide association studies have identified the rs1790349 and rs12785878 single-nucleotid... | DisGeNET | Detail |
| Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on plasma 25-hydroxyvi... | DisGeNET | Detail |
| Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on plasma 25-hydroxyvi... | DisGeNET | Detail |
| Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on plasma 25-hydroxyvi... | DisGeNET | Detail |
| Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on plasma 25-hydroxyvi... | DisGeNET | Detail |
| Recent genome-wide association studies have identified the rs1790349 and rs12785878 single-nucleotid... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs1790349 dbSNP
- Genome
- hg19
- Position
- chr11:71,142,350-71,142,350
- 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))
- rs1790349
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3573
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5988
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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