chr20:388261:A>G Detail (hg38) (TRIB3)

Information

Genome

Assembly Position
hg19 chr20:368,905-368,905 View the variant detail on this assembly version.
hg38 chr20:388,261-388,261

HGVS

Type Transcript Protein
RefSeq NM_001301188.1:c.251A>G NP_001288117.1:p.Gln84Arg
NM_001301190.1:c.251A>G NP_001288119.1:p.Gln84Arg
NM_001301193.1:c.251A>G NP_001288122.1:p.Gln84Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.231
ToMMo:0.231
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.197

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 607898 OMIM
HGNC 16228 HGNC
Ensembl ENSG00000101255 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62846508 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
<0.001 Cardiovascular Diseases We investigated the combined role of single nucleotide polymorphisms (SNPs) affe... BeFree 23107043 Detail
0.627 Diabetes Mellitus, Non-Insulin-Dependent In this Review, we discuss the role of relatively infrequent polymorphisms of ge... BeFree 19924153 Detail
0.007 Diabetes Mellitus, Non-Insulin-Dependent In this Review, we discuss the role of relatively infrequent polymorphisms of ge... BeFree 19924153 Detail
0.168 Impaired glucose tolerance In sample 1 (n=791), the association between TRIB3 Q84R and impaired glucose reg... BeFree 20393693 Detail
<0.001 Carotid Atherosclerosis TRIB3 functional Q84R polymorphism is a risk factor for metabolic syndrome and c... BeFree 19389818 Detail
0.374 Diabetes Mellitus, Non-Insulin-Dependent In sample 1 (n=791), the association between TRIB3 Q84R and impaired glucose reg... BeFree 20393693 Detail
0.007 Diabetes Mellitus, Non-Insulin-Dependent Association of TRB3 gene Q84R polymorphism with type 2 diabetes mellitus in Chin... BeFree 19291425 Detail
<0.001 arteriosclerosis We wanted to replicate this latter association and, if so, to get deeper insight... BeFree 20693163 Detail
0.007 Diabetes Mellitus, Non-Insulin-Dependent In sample 1 (n=791), the association between TRIB3 Q84R and impaired glucose reg... BeFree 20393693 Detail
<0.001 Impaired glucose tolerance In sample 1 (n=791), the association between TRIB3 Q84R and impaired glucose reg... BeFree 20393693 Detail
0.123 Metabolic syndrome X TRIB3 functional Q84R polymorphism is a risk factor for metabolic syndrome and c... BeFree 19389818 Detail
0.007 Diabetes Mellitus, Non-Insulin-Dependent The TRIB3 Q84R polymorphism and risk of early-onset type 2 diabetes. BeFree 18984671 Detail
<0.001 atherosclerosis We wanted to replicate this latter association and, if so, to get deeper insight... BeFree 20693163 Detail
<0.001 myocardial infarction We have recently described a Q84R gain-of-function polymorphism of TRIB3 with th... BeFree 18436806 Detail
Annotation

Annotations

DescrptionSourceLinks
We investigated the combined role of single nucleotide polymorphisms (SNPs) affecting insulin signal... DisGeNET Detail
In this Review, we discuss the role of relatively infrequent polymorphisms of genes that regulate in... DisGeNET Detail
In this Review, we discuss the role of relatively infrequent polymorphisms of genes that regulate in... DisGeNET Detail
In sample 1 (n=791), the association between TRIB3 Q84R and impaired glucose regulation (IGR; define... DisGeNET Detail
TRIB3 functional Q84R polymorphism is a risk factor for metabolic syndrome and carotid atheroscleros... DisGeNET Detail
In sample 1 (n=791), the association between TRIB3 Q84R and impaired glucose regulation (IGR; define... DisGeNET Detail
Association of TRB3 gene Q84R polymorphism with type 2 diabetes mellitus in Chinese population. DisGeNET Detail
We wanted to replicate this latter association and, if so, to get deeper insights about the molecula... DisGeNET Detail
In sample 1 (n=791), the association between TRIB3 Q84R and impaired glucose regulation (IGR; define... DisGeNET Detail
In sample 1 (n=791), the association between TRIB3 Q84R and impaired glucose regulation (IGR; define... DisGeNET Detail
TRIB3 functional Q84R polymorphism is a risk factor for metabolic syndrome and carotid atheroscleros... DisGeNET Detail
The TRIB3 Q84R polymorphism and risk of early-onset type 2 diabetes. DisGeNET Detail
We wanted to replicate this latter association and, if so, to get deeper insights about the molecula... DisGeNET Detail
We have recently described a Q84R gain-of-function polymorphism of TRIB3 with the R84 variant being ... 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
chr20:388,261-388,261
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1157
Mean of sample read depth (HGVD)
103.03
Standard deviation of sample read depth (HGVD)
52.68
Number of reference allele (HGVD)
1779
Number of alternative allele (HGVD)
533
Allele Frequency (HGVD)
0.2305363321799308
Gene Symbol (HGVD)
TRIB3
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))
rs2295490
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2314
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3879
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8528
East Asian Allele Counts (ExAC)
1684
East Asian Heterozygous Counts (ExAC)
1364
East Asian Homozygous Counts (ExAC)
160
East Asian Allele Frequency (ExAC)
0.1974671669793621
Chromosome Counts in All Race (ExAC)
118924
Allele Counts in All Race (ExAC)
21807
Heterozygous Counts in All Race (ExAC)
16809
Homozygous Counts in All Race (ExAC)
2499
Allele Frequency in All Race (ExAC)
0.18336921058827488
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