chr7:80242920:A>G Detail (hg19) (CD36)

Information

Genome

Assembly Position
hg19 chr7:80,242,920-80,242,920
hg38 chr7:80,613,604-80,613,604 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001001547.2:c.-184+11225A>G
NM_001289911.1:c.-109+11225A>G
Ensemble ENST00000309881.11:c.-184+11225A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.454
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance no classification for the single variant
Review star
Show details
Links
Type Database ID Link
Gene MIM 173510 OMIM
HGNC 1663 HGNC
Ensembl ENSG00000135218 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv29860098 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2004-10-01 no assertion criteria provided Coronary heart disease, susceptibility to, 7 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 Dyslipidemias Furthermore, we found that a variant of CD36 was associated with dyslipidemia as... BeFree 23247049 Detail
<0.001 Hypercholesterolemia Allele and genotype disease association test revealed that APOB rs693 (OR: 2.2 [... BeFree 23247049 Detail
0.258 Hypercholesterolemia Allele and genotype disease association test revealed that APOB rs693 (OR: 2.2 [... BeFree 23247049 Detail
Annotation

Annotations

DescrptionSourceLinks
Multiple alleles AND Coronary heart disease, susceptibility to, 7 ClinVar Detail
Furthermore, we found that a variant of CD36 was associated with dyslipidemia as a risk (rs1984112) ... DisGeNET Detail
Allele and genotype disease association test revealed that APOB rs693 (OR: 2.2 [1.5-3.2], p=0.0001) ... DisGeNET Detail
Allele and genotype disease association test revealed that APOB rs693 (OR: 2.2 [1.5-3.2], p=0.0001) ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1049673 dbSNP
Genome
hg19
Position
chr7:80,242,920-80,242,920
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))
rs1984112
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4538
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7604
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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