chr2:43505684:T>C Detail (hg38) (THADA)

Information

Genome

Assembly Position
hg19 chr2:43,732,823-43,732,823 View the variant detail on this assembly version.
hg38 chr2:43,505,684-43,505,684

HGVS

Type Transcript Protein
RefSeq NM_001083953.1:c.3559A>G NP_001077422.1:p.Thr1187Ala
NM_022065.4:c.3559A>G NP_071348.3:p.Thr1187Ala
Ensemble ENST00000405006.8:c.3559A>G ENST00000405006.8:p.Thr1187Ala
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.009
ToMMo:0.009
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.013

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 611800 OMIM
HGNC 19217 HGNC
Ensembl ENSG00000115970 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv6669752 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
0.466 Diabetes Mellitus, Non-Insulin-Dependent Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
0.057 Diabetes Mellitus, Non-Insulin-Dependent Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
<0.001 colorectal cancer Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
0.005 colorectal carcinoma Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
<0.001 colorectal carcinoma Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
<0.001 colorectal carcinoma Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
<0.001 colorectal cancer Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
<0.001 colorectal cancer Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
0.005 colorectal cancer Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
0.314 Diabetes Mellitus, Non-Insulin-Dependent Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
0.032 Diabetes Mellitus, Non-Insulin-Dependent Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
<0.001 colorectal carcinoma Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... BeFree 21602532 Detail
0.296 Diabetes Mellitus, Non-Insulin-Dependent Meta-analysis of genome-wide association data and large-scale replication identi... GWASCAT 18372903 Detail
0.296 Diabetes Mellitus, Non-Insulin-Dependent None of the variants was associated with T2D, but the meta-analysis of both coho... BeFree 19670153 Detail
0.296 Diabetes Mellitus, Non-Insulin-Dependent THADA variant (rs7578597) was associated with type 2 diabetes (OR 1.5; 95% CI 1.... BeFree 22052079 Detail
0.083 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.393 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.214 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.336 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.314 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.290 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.296 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.003 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.090 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.341 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.181 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.057 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.017 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.032 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.176 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.293 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.005 obesity Most notably, 5 SNPs from 5 genes [body mass index (BMI), hip circumference: rs3... BeFree 25060389 Detail
0.008 obesity Most notably, 5 SNPs from 5 genes [body mass index (BMI), hip circumference: rs3... BeFree 25060389 Detail
0.006 diabetes mellitus We evaluated the impact on diabetes-related intermediary traits of common novel ... BeFree 18567820 Detail
0.005 diabetes mellitus We evaluated the impact on diabetes-related intermediary traits of common novel ... BeFree 18567820 Detail
<0.001 Diabetes We evaluated the impact on diabetes-related intermediary traits of common novel ... BeFree 18567820 Detail
0.293 Diabetes Mellitus, Non-Insulin-Dependent We evaluated the impact on diabetes-related intermediary traits of common novel ... BeFree 18567820 Detail
0.001 Diabetes We evaluated the impact on diabetes-related intermediary traits of common novel ... BeFree 18567820 Detail
<0.001 Diabetes We evaluated the impact on diabetes-related intermediary traits of common novel ... BeFree 18567820 Detail
0.008 diabetes mellitus We evaluated the impact on diabetes-related intermediary traits of common novel ... BeFree 18567820 Detail
Annotation

Annotations

DescrptionSourceLinks
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... DisGeNET Detail
Meta-analysis of genome-wide association data and large-scale replication identifies additional susc... DisGeNET Detail
None of the variants was associated with T2D, but the meta-analysis of both cohorts revealed a modes... DisGeNET Detail
THADA variant (rs7578597) was associated with type 2 diabetes (OR 1.5; 95% CI 1.04, 2.22; p = 0.03). DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
Most notably, 5 SNPs from 5 genes [body mass index (BMI), hip circumference: rs3751812/FTO; fasting ... DisGeNET Detail
Most notably, 5 SNPs from 5 genes [body mass index (BMI), hip circumference: rs3751812/FTO; fasting ... DisGeNET Detail
We evaluated the impact on diabetes-related intermediary traits of common novel type 2 diabetes-asso... DisGeNET Detail
We evaluated the impact on diabetes-related intermediary traits of common novel type 2 diabetes-asso... DisGeNET Detail
We evaluated the impact on diabetes-related intermediary traits of common novel type 2 diabetes-asso... DisGeNET Detail
We evaluated the impact on diabetes-related intermediary traits of common novel type 2 diabetes-asso... DisGeNET Detail
We evaluated the impact on diabetes-related intermediary traits of common novel type 2 diabetes-asso... DisGeNET Detail
We evaluated the impact on diabetes-related intermediary traits of common novel type 2 diabetes-asso... DisGeNET Detail
We evaluated the impact on diabetes-related intermediary traits of common novel type 2 diabetes-asso... 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
chr2:43,505,684-43,505,684
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
104.19
Standard deviation of sample read depth (HGVD)
53.62
Number of reference allele (HGVD)
2399
Number of alternative allele (HGVD)
21
Allele Frequency (HGVD)
0.008677685950413223
Gene Symbol (HGVD)
THADA
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))
rs7578597
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0087
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
146
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
3880
East Asian Allele Counts (ExAC)
49
East Asian Heterozygous Counts (ExAC)
47
East Asian Homozygous Counts (ExAC)
1
East Asian Allele Frequency (ExAC)
0.012628865979381444
Chromosome Counts in All Race (ExAC)
54810
Allele Counts in All Race (ExAC)
9500
Heterozygous Counts in All Race (ExAC)
8190
Homozygous Counts in All Race (ExAC)
655
Allele Frequency in All Race (ExAC)
0.1733260353950009
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