chr11:116789970:G>A Detail (hg38) (APOA5)

Information

Genome

Assembly Position
hg19 chr11:116,660,686-116,660,686 View the variant detail on this assembly version.
hg38 chr11:116,789,970-116,789,970

HGVS

Type Transcript Protein
RefSeq NM_001166598.1:c.*158C>T
NM_052968.4:c.*158C>T
Ensemble ENST00000227665.9:c.*158C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.727
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 606368 OMIM
HGNC 17288 HGNC
Ensembl ENSG00000110243 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv44157038 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2014-01-02 no assertion criteria provided Hypertriglyceridemia 1 germline Detail
Benign 2018-08-30 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.125 Metabolic syndrome X [Qualitative and quantitative pleiotropic tests on pairs of traits indicate that... GAD 21386085 Detail
0.125 Metabolic syndrome X A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. GWASCAT 21386085 Detail
0.171 Metabolic syndrome X [Qualitative and quantitative pleiotropic tests on pairs of traits indicate that... GAD 21386085 Detail
0.171 Metabolic syndrome X A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. GWASCAT 21386085 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001371904.1(APOA5):c.*158C>T AND Hypertriglyceridemia 1 ClinVar Detail
NM_001371904.1(APOA5):c.*158C>T AND not provided ClinVar Detail
[Qualitative and quantitative pleiotropic tests on pairs of traits indicate that a small portion of ... DisGeNET Detail
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. DisGeNET Detail
[Qualitative and quantitative pleiotropic tests on pairs of traits indicate that a small portion of ... DisGeNET Detail
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. 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
rs2266788 dbSNP
Genome
hg38
Position
chr11:116,789,970-116,789,970
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))
rs2266788
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7272
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12186
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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