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

DescrptionSourceLinks
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
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