chr6:31216419:A>G Detail (hg38)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr6:31,184,196-31,184,196 View the variant detail on this assembly version. |
hg38 | chr6:31,216,419-31,216,419 |
HGVS
[No Data.]
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.518 | |
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 artery disease | A novel CAD locus on chromosome 6p21.3 in the major histocompatibility complex (... | BeFree | 22319020 | Detail |
0.003 | coronary artery disease | [A novel CAD locus on chromosome 6p21.3 in the major histocompatibility complex ... | GAD | 22319020 | Detail |
0.003 | coronary artery disease | A novel CAD locus on chromosome 6p21.3 in the major histocompatibility complex (... | BeFree | 22319020 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
A novel CAD locus on chromosome 6p21.3 in the major histocompatibility complex (MHC) between HCG27 a... | DisGeNET | Detail |
[A novel CAD locus on chromosome 6p21.3 in the major histocompatibility complex (MHC) between HCG27 ... | DisGeNET | Detail |
A novel CAD locus on chromosome 6p21.3 in the major histocompatibility complex (MHC) between HCG27 a... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs3869109 dbSNP
- Genome
- hg38
- Position
- chr6:31,216,419-31,216,419
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- 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))
- rs3869109
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.518
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8682
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser