chr16:56996288:G>A Detail (hg19) (CETP)

Information

Genome

Assembly Position
hg19 chr16:56,996,288-56,996,288
hg38 chr16:56,962,376-56,962,376 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000078.2:c.118+279G>A
NM_001286085.1:c.118+279G>A
Ensemble ENST00000200676.8:c.118+279G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.402
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.403

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 118470 OMIM
HGNC 1869 HGNC
Ensembl ENSG00000087237 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv55623369 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-08-30 criteria provided, single submitter not provided germline Detail
Benign 2022-05-12 criteria provided, single submitter Coronary artery disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.068 myocardial infarction Among 3,717 patients with acute coronary syndrome or coronary artery bypass graf... BeFree 23891427 Detail
0.009 Acute coronary syndrome Among 3,717 patients with acute coronary syndrome or coronary artery bypass graf... BeFree 23891427 Detail
0.201 Cardiovascular Diseases Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated wit... BeFree 22011848 Detail
0.008 Cardiovascular Diseases Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated wit... BeFree 22011848 Detail
<0.001 Cardiovascular Diseases Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated wit... BeFree 22011848 Detail
0.009 cholecystolithiasis Genetic variants involved in gallstone formation such as the apolipoprotein B rs... BeFree 20082485 Detail
0.005 cholelithiasis Genetic variants involved in gallstone formation such as the apolipoprotein B rs... BeFree 20082485 Detail
0.011 cholelithiasis Genetic variants involved in gallstone formation such as the apolipoprotein B rs... BeFree 20082485 Detail
0.003 Malignant neoplasm of gallbladder Genetic variants involved in gallstone formation such as the apolipoprotein B rs... BeFree 20082485 Detail
0.003 cholecystolithiasis Genetic variants involved in gallstone formation such as the apolipoprotein B rs... BeFree 20082485 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000078.3(CETP):c.118+279G>A AND not provided ClinVar Detail
NM_000078.3(CETP):c.118+279G>A AND Coronary artery disorder ClinVar Detail
Among 3,717 patients with acute coronary syndrome or coronary artery bypass grafting (CABG) enrolled... DisGeNET Detail
Among 3,717 patients with acute coronary syndrome or coronary artery bypass grafting (CABG) enrolled... DisGeNET Detail
Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated with inflammation, was ... DisGeNET Detail
Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated with inflammation, was ... DisGeNET Detail
Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated with inflammation, was ... DisGeNET Detail
Genetic variants involved in gallstone formation such as the apolipoprotein B rs693 and CETP rs70827... DisGeNET Detail
Genetic variants involved in gallstone formation such as the apolipoprotein B rs693 and CETP rs70827... DisGeNET Detail
Genetic variants involved in gallstone formation such as the apolipoprotein B rs693 and CETP rs70827... DisGeNET Detail
Genetic variants involved in gallstone formation such as the apolipoprotein B rs693 and CETP rs70827... DisGeNET Detail
Genetic variants involved in gallstone formation such as the apolipoprotein B rs693 and CETP rs70827... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs708272 dbSNP
Genome
hg19
Position
chr16:56,996,288-56,996,288
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs708272
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4019
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6736
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
7936
East Asian Allele Counts (ExAC)
3199
East Asian Heterozygous Counts (ExAC)
1921
East Asian Homozygous Counts (ExAC)
639
East Asian Allele Frequency (ExAC)
0.40309979838709675
Chromosome Counts in All Race (ExAC)
109162
Allele Counts in All Race (ExAC)
46849
Heterozygous Counts in All Race (ExAC)
26957
Homozygous Counts in All Race (ExAC)
9946
Allele Frequency in All Race (ExAC)
0.4291694912148916
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