chr10:114756041:A>T Detail (hg19) (TCF7L2)

Information

Genome

Assembly Position
hg19 chr10:114,756,041-114,756,041
hg38 chr10:112,996,282-112,996,282 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001198527.1:c.382-43743A>T
NM_001146283.1:c.382-43743A>T
NM_001198525.1:c.382-43743A>T
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 tgv40707708 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
0.614 Diabetes Mellitus, Non-Insulin-Dependent Given the overlap between PCOS and T2DM, we investigated the association of tran... BeFree 24157263 Detail
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 Genome-wide association study of 14,000 cases of seven common diseases and 3,000... GWASCAT 17554300 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
Given the overlap between PCOS and T2DM, we investigated the association of transcription factor-7-l... DisGeNET Detail
Association with GDM was found for two of the most frequently replicated T2D loci: a TCF7L2 haplotyp... DisGeNET Detail
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 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
rs4506565 dbSNP
Genome
hg19
Position
chr10:114,756,041-114,756,041
Variant Type
snv
Reference Allele
A
Alternative Allele
T
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))
rs4506565
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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