chr7:80672184:G>A Detail (hg38) (CD36)

Information

Genome

Assembly Position
hg19 chr7:80,301,500-80,301,500 View the variant detail on this assembly version.
hg38 chr7:80,672,184-80,672,184

HGVS

Type Transcript Protein
RefSeq NM_001001547.2:c.1125+144G>A
NM_000072.3:c.1125+144G>A
NM_001127443.1:c.1125+144G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.215
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 173510 OMIM
HGNC 1663 HGNC
Ensembl ENSG00000135218 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv29861848 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
Benign 2018-11-10 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Multiple alleles AND Coronary heart disease, susceptibility to, 7 ClinVar Detail
NM_001001548.3(CD36):c.1125+144G>A AND not provided ClinVar Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1049673 dbSNP
Genome
hg38
Position
chr7:80,672,184-80,672,184
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))
rs1527483
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2154
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3610
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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