chr15:58723675:C>T Detail (hg19) (LIPC)

Information

Genome

Assembly Position
hg19 chr15:58,723,675-58,723,675
hg38 chr15:58,431,476-58,431,476 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000356113.10:c.-41+325C>T
ENST00000414170.7:c.-40-517C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.509
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.383

Prediction

ClinVar

Clinical Significance association
Review star
Show details
Links
Type Database ID Link
Gene MIM 151670 OMIM
HGNC 6619 HGNC
Ensembl ENSG00000166035 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53121442 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
association 2004-08-01 no assertion criteria provided High density lipoprotein cholesterol level quantitative trait locus 12 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.013 Dyslipidemias We examined the influence of the promoter polymorphisms -250G/A (rs2070895) and ... BeFree 25117371 Detail
0.042 coronary artery disease The common C-480T polymorphism (rs1800588) of the hepatic lipase gene (LIPC) has... BeFree 19558527 Detail
0.024 Coronary heart disease The common C-480T polymorphism (rs1800588) of the hepatic lipase gene (LIPC) has... BeFree 19558527 Detail
0.042 coronary artery disease A family-based quantitative transmission disequilibrium test (QTDT) revealed sig... BeFree 20075193 Detail
0.008 Diabetic Nephropathy [ HL T+ genotypes might increase the risk of developing diabetic nephropathy by ... GAD 15983323 Detail
0.042 coronary artery disease We studied this relation by genotyping rs1800588 in the LIPC promoter in a case-... BeFree 23874450 Detail
0.017 Coronary Arteriosclerosis The common C-480T polymorphism (rs1800588) of the hepatic lipase gene (LIPC) has... BeFree 19558527 Detail
<0.001 Hashimoto Disease We analyzed the associations of seven polymorphisms of genes involved in lipid m... BeFree 25587205 Detail
Annotation

Annotations

DescrptionSourceLinks
NC_000015.10:g.58431476C>T AND High density lipoprotein cholesterol level quantitative trait locus 1... ClinVar Detail
We examined the influence of the promoter polymorphisms -250G/A (rs2070895) and -514C/T (rs1800588) ... DisGeNET Detail
The common C-480T polymorphism (rs1800588) of the hepatic lipase gene (LIPC) has been associated wit... DisGeNET Detail
The common C-480T polymorphism (rs1800588) of the hepatic lipase gene (LIPC) has been associated wit... DisGeNET Detail
A family-based quantitative transmission disequilibrium test (QTDT) revealed significant association... DisGeNET Detail
[ HL T+ genotypes might increase the risk of developing diabetic nephropathy by slowing clearance of... DisGeNET Detail
We studied this relation by genotyping rs1800588 in the LIPC promoter in a case-control study on CAD... DisGeNET Detail
The common C-480T polymorphism (rs1800588) of the hepatic lipase gene (LIPC) has been associated wit... DisGeNET Detail
We analyzed the associations of seven polymorphisms of genes involved in lipid metabolism (APOA5 rs3... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1800588 dbSNP
Genome
hg19
Position
chr15:58,723,675-58,723,675
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs1800588
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5086
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8524
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8194
East Asian Allele Counts (ExAC)
3141
East Asian Heterozygous Counts (ExAC)
1973
East Asian Homozygous Counts (ExAC)
584
East Asian Allele Frequency (ExAC)
0.38332926531608497
Chromosome Counts in All Race (ExAC)
112760
Allele Counts in All Race (ExAC)
32914
Heterozygous Counts in All Race (ExAC)
21208
Homozygous Counts in All Race (ExAC)
5853
Allele Frequency in All Race (ExAC)
0.2918942887548776
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