chr19:19268740:C>T Detail (hg38) (TM6SF2)

Information

Genome

Assembly Position
hg19 chr19:19,379,549-19,379,549 View the variant detail on this assembly version.
hg38 chr19:19,268,740-19,268,740

HGVS

Type Transcript Protein
RefSeq NM_001001524.2:c.499G>A NP_001001524.2:p.Glu167Lys
Ensemble ENST00000389363.5:c.499G>A ENST00000389363.5:p.Glu167Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.076
ToMMo:0.082
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.073

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 606563 OMIM
HGNC 11861 HGNC
Ensembl ENSG00000213996 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv61530742 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
0.008 Non-alcoholic Fatty Liver Disease Circulating triacylglycerol signatures and insulin sensitivity in NAFLD associat... BeFree 25457209 Detail
<0.001 Fibrosis, Liver TM6SF2 rs58542926 influences hepatic fibrosis progression in patients with non-a... BeFree 24978903 Detail
<0.001 Hepatitis C, Chronic TM6SF2 E167K variant impacts on steatosis severity and is associated with liver ... BeFree 25820484 Detail
0.163 Fatty Liver A discrete trait analysis of NAFLD showed that rs58542926 was associated with a ... BeFree 25302781 Detail
0.265 Non-alcoholic Fatty Liver Disease A discrete trait analysis of NAFLD showed that rs58542926 was associated with a ... BeFree 25302781 Detail
<0.001 Fatty Liver Carriers of the TM6SF2 E167K variant have fatty liver as a result of reduced sec... BeFree 25251399 Detail
0.122 Non-alcoholic Fatty Liver Disease Here we aimed to investigate the contribution of DNL to liver fat accumulation i... BeFree 25763607 Detail
0.265 Non-alcoholic Fatty Liver Disease Here we aimed to investigate the contribution of DNL to liver fat accumulation i... BeFree 25763607 Detail
0.122 Non-alcoholic Fatty Liver Disease The TM6SF2 E167K variant was genotyped by TaqMan assays, steatosis graded accord... BeFree 25820484 Detail
0.122 Non-alcoholic Fatty Liver Disease Circulating triacylglycerol signatures and insulin sensitivity in NAFLD associat... BeFree 25457209 Detail
<0.001 Steatohepatitis The transmembrane 6 superfamily member 2 (TM6SF2) gene E167K variant increases l... BeFree 25820484 Detail
0.122 Non-alcoholic Fatty Liver Disease TM6SF2 rs58542926 influences hepatic fibrosis progression in patients with non-a... BeFree 24978903 Detail
Annotation

Annotations

DescrptionSourceLinks
Circulating triacylglycerol signatures and insulin sensitivity in NAFLD associated with the E167K va... DisGeNET Detail
TM6SF2 rs58542926 influences hepatic fibrosis progression in patients with non-alcoholic fatty liver... DisGeNET Detail
TM6SF2 E167K variant impacts on steatosis severity and is associated with liver damage and fibrosis ... DisGeNET Detail
A discrete trait analysis of NAFLD showed that rs58542926 was associated with a modest risk of fatty... DisGeNET Detail
A discrete trait analysis of NAFLD showed that rs58542926 was associated with a modest risk of fatty... DisGeNET Detail
Carriers of the TM6SF2 E167K variant have fatty liver as a result of reduced secretion of very-low-d... DisGeNET Detail
Here we aimed to investigate the contribution of DNL to liver fat accumulation in the PNPLA3 I148M o... DisGeNET Detail
Here we aimed to investigate the contribution of DNL to liver fat accumulation in the PNPLA3 I148M o... DisGeNET Detail
The TM6SF2 E167K variant was genotyped by TaqMan assays, steatosis graded according to the nonalcoho... DisGeNET Detail
Circulating triacylglycerol signatures and insulin sensitivity in NAFLD associated with the E167K va... DisGeNET Detail
The transmembrane 6 superfamily member 2 (TM6SF2) gene E167K variant increases liver fat and risk of... DisGeNET Detail
TM6SF2 rs58542926 influences hepatic fibrosis progression in patients with non-alcoholic fatty liver... 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
-
Genome
hg38
Position
chr19:19,268,740-19,268,740
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1170
Mean of sample read depth (HGVD)
47.22
Standard deviation of sample read depth (HGVD)
22.47
Number of reference allele (HGVD)
2161
Number of alternative allele (HGVD)
179
Allele Frequency (HGVD)
0.0764957264957265
Gene Symbol (HGVD)
TM6SF2
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))
rs58542926
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0817
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1370
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8436
East Asian Allele Counts (ExAC)
616
East Asian Heterozygous Counts (ExAC)
572
East Asian Homozygous Counts (ExAC)
22
East Asian Allele Frequency (ExAC)
0.07302038880986249
Chromosome Counts in All Race (ExAC)
117042
Allele Counts in All Race (ExAC)
8595
Heterozygous Counts in All Race (ExAC)
7905
Homozygous Counts in All Race (ExAC)
345
Allele Frequency in All Race (ExAC)
0.07343517711590711
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