chr10:112994329:T>C Detail (hg38) (TCF7L2)

Information

Genome

Assembly Position
hg19 chr10:114,754,088-114,754,088 View the variant detail on this assembly version.
hg38 chr10:112,994,329-112,994,329

HGVS

Type Transcript Protein
RefSeq NM_001198528.1:c.381+42722T>C
NM_001146283.1:c.381+42722T>C
NM_001198527.1:c.381+42722T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.045
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
Type Database ID Link
Gene MIM 602228 OMIM
HGNC 11641 HGNC
Ensembl ENSG00000148737 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40707669 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
0.014 gestational diabetes Association with GDM was found for two of the most frequently replicated T2D loc... BeFree 25973943 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent Replication of genome-wide association signals in UK samples reveals risk loci f... GWASCAT 17463249 Detail
0.009 Coronary heart disease [suggest that no major loci uniquely explain the high prevalence of CHD in Afric... GAD 21347282 Detail
0.030 obesity In the obese-type 2 diabetes scan, FTO variants had the strongest type 2 diabete... BeFree 19056611 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent Genome-wide association study of coronary heart disease and its risk factors in ... GWASCAT 21347282 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent In the obese-type 2 diabetes scan, FTO variants had the strongest type 2 diabete... BeFree 19056611 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent We find a high F (ST) for rs7901695 at TCF7L2, the largest type 2 diabetes effec... BeFree 19526209 Detail
0.341 Diabetes Mellitus, Non-Insulin-Dependent In the obese-type 2 diabetes scan, FTO variants had the strongest type 2 diabete... BeFree 19056611 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
0.014 gestational diabetes Among Caucasian women, GDM was associated with carriage of TCF7L2 rs7901695, MTN... BeFree 23456907 Detail
0.290 Diabetes Mellitus, Non-Insulin-Dependent Among Caucasian women, GDM was associated with carriage of TCF7L2 rs7901695, MTN... BeFree 23456907 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent Among Caucasian women, GDM was associated with carriage of TCF7L2 rs7901695, MTN... BeFree 23456907 Detail
0.162 Diabetes Mellitus, Non-Insulin-Dependent Among Caucasian women, GDM was associated with carriage of TCF7L2 rs7901695, MTN... BeFree 23456907 Detail
0.045 diabetes mellitus We genotyped four single nucleotide polymorphisms (SNPs) of TCF7L2 (rs7901695, r... BeFree 18291022 Detail
0.018 Diabetes We genotyped four single nucleotide polymorphisms (SNPs) of TCF7L2 (rs7901695, r... BeFree 18291022 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent We compared genotype frequencies in subjects with type 2 diabetes with those wit... BeFree 16936218 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent Through an exhaustive search of pair-wise interactions and a selected search of ... BeFree 23626757 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent Through an exhaustive search of pair-wise interactions and a selected search of ... BeFree 23626757 Detail
0.341 Diabetes Mellitus, Non-Insulin-Dependent Through an exhaustive search of pair-wise interactions and a selected search of ... BeFree 23626757 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent Through an exhaustive search of pair-wise interactions and a selected search of ... BeFree 23626757 Detail
Annotation

Annotations

DescrptionSourceLinks
Association with GDM was found for two of the most frequently replicated T2D loci: a TCF7L2 haplotyp... DisGeNET Detail
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. DisGeNET Detail
[suggest that no major loci uniquely explain the high prevalence of CHD in African Americans.] DisGeNET Detail
In the obese-type 2 diabetes scan, FTO variants had the strongest type 2 diabetes effect (rs8050136:... DisGeNET Detail
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americ... DisGeNET Detail
In the obese-type 2 diabetes scan, FTO variants had the strongest type 2 diabetes effect (rs8050136:... DisGeNET Detail
We find a high F (ST) for rs7901695 at TCF7L2, the largest type 2 diabetes effect size found to date... DisGeNET Detail
In the obese-type 2 diabetes scan, FTO variants had the strongest type 2 diabetes effect (rs8050136:... 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
Among Caucasian women, GDM was associated with carriage of TCF7L2 rs7901695, MTNR1B rs10830963 and G... DisGeNET Detail
Among Caucasian women, GDM was associated with carriage of TCF7L2 rs7901695, MTNR1B rs10830963 and G... DisGeNET Detail
Among Caucasian women, GDM was associated with carriage of TCF7L2 rs7901695, MTNR1B rs10830963 and G... DisGeNET Detail
Among Caucasian women, GDM was associated with carriage of TCF7L2 rs7901695, MTNR1B rs10830963 and G... DisGeNET Detail
We genotyped four single nucleotide polymorphisms (SNPs) of TCF7L2 (rs7901695, rs7903146, rs11196205... DisGeNET Detail
We genotyped four single nucleotide polymorphisms (SNPs) of TCF7L2 (rs7901695, rs7903146, rs11196205... DisGeNET Detail
We compared genotype frequencies in subjects with type 2 diabetes with those with NGT and found marg... DisGeNET Detail
Through an exhaustive search of pair-wise interactions and a selected search of three- to five-way i... DisGeNET Detail
Through an exhaustive search of pair-wise interactions and a selected search of three- to five-way i... DisGeNET Detail
Through an exhaustive search of pair-wise interactions and a selected search of three- to five-way i... DisGeNET Detail
Through an exhaustive search of pair-wise interactions and a selected search of three- to five-way i... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs7901695 dbSNP
Genome
hg38
Position
chr10:112,994,329-112,994,329
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))
rs7901695
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0453
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
759
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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