chr11:116700142:T>C Detail (hg19)

Information

Genome

Assembly Position
hg19 chr11:116,700,142-116,700,142
hg38 chr11:116,829,426-116,829,426 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.521
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.265 Non-alcoholic Fatty Liver Disease Genotypes for rs2854116 and rs2854117 in APOC3 and the known rs738409 in patatin... BeFree 24707151 Detail
0.002 Non-alcoholic Fatty Liver Disease Apolipoprotein C3 (APOC3) is a component of triglyceride-rich lipoproteins, and ... BeFree 21663607 Detail
Annotation

Annotations

DescrptionSourceLinks
Genotypes for rs2854116 and rs2854117 in APOC3 and the known rs738409 in patatin-like phospholipase ... DisGeNET Detail
Apolipoprotein C3 (APOC3) is a component of triglyceride-rich lipoproteins, and APOC3 rs2854116 and ... DisGeNET Detail
Gene
-
dbSNP
rs2854117 dbSNP
Genome
hg19
Position
chr11:116,700,142-116,700,142
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs2854117
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5212
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8734
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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