chr7:80677034:C>G Detail (hg38) (CD36)

Information

Genome

Assembly Position
hg19 chr7:80,306,350-80,306,350 View the variant detail on this assembly version.
hg38 chr7:80,677,034-80,677,034

HGVS

Type Transcript Protein
RefSeq NM_001001548.2:c.*651C>G
Ensemble ENST00000447544.7:c.*651C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.574
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 tgv29862213 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
0.005 Coronary Arteriosclerosis Association between rs1049673 polymorphism in CD36 and premature coronary heart ... BeFree 25299084 Detail
0.125 Coronary heart disease Association between rs1049673 polymorphism in CD36 and premature coronary heart ... BeFree 25299084 Detail
Annotation

Annotations

DescrptionSourceLinks
Multiple alleles AND Coronary heart disease, susceptibility to, 7 ClinVar Detail
Association between rs1049673 polymorphism in CD36 and premature coronary heart disease. DisGeNET Detail
Association between rs1049673 polymorphism in CD36 and premature coronary heart disease. DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1049673 dbSNP
Genome
hg38
Position
chr7:80,677,034-80,677,034
Variant Type
snv
Reference Allele
C
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))
rs1049673
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5741
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9620
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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