chr2:21004511:C>G Detail (hg38) (APOB)

Information

Genome

Assembly Position
hg19 chr2:21,227,383-21,227,383 View the variant detail on this assembly version.
hg38 chr2:21,004,511-21,004,511

HGVS

Type Transcript Protein
RefSeq NM_000384.2:c.11903+50G>C
Ensemble ENST00000233242.5:c.11903+50G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.039
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.050

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 107730 OMIM
HGNC 603 HGNC
Ensembl ENSG00000084674 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv6080236 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.086 coronary artery disease Two SNPs in the Apolipoprotein B (Apo B) gene [rs1042031 and rs1800479], one in ... BeFree 25134189 Detail
0.059 coronary artery disease Two SNPs in the Apolipoprotein B (Apo B) gene [rs1042031 and rs1800479], one in ... BeFree 25134189 Detail
Annotation

Annotations

DescrptionSourceLinks
Two SNPs in the Apolipoprotein B (Apo B) gene [rs1042031 and rs1800479], one in the Cholesterol Este... DisGeNET Detail
Two SNPs in the Apolipoprotein B (Apo B) gene [rs1042031 and rs1800479], one in the Cholesterol Este... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1800479 dbSNP
Genome
hg38
Position
chr2:21,004,511-21,004,511
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))
rs1800479
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0389
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
652
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Homozygous Counts in All Race (ExAC)
1593
East Asian Chromosome Counts (ExAC)
8638
East Asian Allele Counts (ExAC)
428
East Asian Heterozygous Counts (ExAC)
396
East Asian Homozygous Counts (ExAC)
16
East Asian Allele Frequency (ExAC)
0.04954850659874971
Chromosome Counts in All Race (ExAC)
121160
Allele Counts in All Race (ExAC)
18739
Heterozygous Counts in All Race (ExAC)
15553
Allele Frequency in All Race (ExAC)
0.1546632551997359
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