chr15:58723939:G>A Detail (hg19) (LIPC)

Information

Genome

Assembly Position
hg19 chr15:58,723,939-58,723,939
hg38 chr15:58,431,740-58,431,740 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000414170.7:c.-40-253G>A
ENST00000356113.10:c.-40-253G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.514
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
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 tgv53121456 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2008-06-01 no assertion criteria provided Diabetes mellitus type 2, susceptibility to germline Detail
association 2008-06-01 no assertion criteria provided High density lipoprotein cholesterol level quantitative trait locus 12 germline Detail
Benign 2018-11-07 criteria provided, single submitter not provided 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
0.275 Diabetes Mellitus, Non-Insulin-Dependent The LIPC -250G>A (rs2070895) variant was genotyped in the Inter99 study (n = ... BeFree 18364377 Detail
0.006 diabetes mellitus The LIPC -250G>A (rs2070895) variant was genotyped in the Inter99 study (n = ... BeFree 18364377 Detail
0.001 Diabetes The LIPC -250G>A (rs2070895) variant was genotyped in the Inter99 study (n = ... BeFree 18364377 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000236.2(LIPC):c.-293G>A AND Diabetes mellitus type 2, susceptibility to ClinVar Detail
NM_000236.2(LIPC):c.-293G>A AND High density lipoprotein cholesterol level quantitative trait locus ... ClinVar Detail
NM_000236.2(LIPC):c.-293G>A AND not provided ClinVar Detail
We examined the influence of the promoter polymorphisms -250G/A (rs2070895) and -514C/T (rs1800588) ... DisGeNET Detail
The LIPC -250G>A (rs2070895) variant was genotyped in the Inter99 study (n = 6070), the Anglo-Dan... DisGeNET Detail
The LIPC -250G>A (rs2070895) variant was genotyped in the Inter99 study (n = 6070), the Anglo-Dan... DisGeNET Detail
The LIPC -250G>A (rs2070895) variant was genotyped in the Inter99 study (n = 6070), the Anglo-Dan... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2070895 dbSNP
Genome
hg19
Position
chr15:58,723,939-58,723,939
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))
rs2070895
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5142
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8618
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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