chr10:113047288:G>C Detail (hg38) (TCF7L2)

Information

Genome

Assembly Position
hg19 chr10:114,807,047-114,807,047 View the variant detail on this assembly version.
hg38 chr10:113,047,288-113,047,288

HGVS

Type Transcript Protein
RefSeq NM_001198528.1:c.483+7162G>C
NM_001146283.1:c.483+7162G>C
NM_001198527.1:c.483+7162G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.067
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance risk factor
Review star
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 tgv40708652 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2008-01-01 no assertion criteria provided Diabetes mellitus type 2, susceptibility to germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 Diabetes A total of 792 patients with T2DM were enrolled and categorized into two groups:... BeFree 25274455 Detail
0.006 coronary artery disease These results suggest that TCF7L2 variants rs7903146 rs12255372, and rs11196205 ... BeFree 21423583 Detail
0.045 diabetes mellitus We genotyped four single nucleotide polymorphisms (SNPs) of TCF7L2 (rs7901695, r... BeFree 18291022 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent These results suggest that TCF7L2 variants rs7903146 rs12255372, and rs11196205 ... BeFree 21423583 Detail
<0.001 Retinal Diseases A total of 792 patients with T2DM were enrolled and categorized into two groups:... BeFree 25274455 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 Retinal Diseases A total of 792 patients with T2DM were enrolled and categorized into two groups:... BeFree 25274455 Detail
0.002 diabetes mellitus A total of 792 patients with T2DM were enrolled and categorized into two groups:... BeFree 25274455 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent NA CLINVAR 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
NM_001367943.1(TCF7L2):c.552+7162G>C AND Diabetes mellitus type 2, susceptibility to ClinVar Detail
A total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group co... DisGeNET Detail
These results suggest that TCF7L2 variants rs7903146 rs12255372, and rs11196205 are significantly as... DisGeNET Detail
We genotyped four single nucleotide polymorphisms (SNPs) of TCF7L2 (rs7901695, rs7903146, rs11196205... DisGeNET Detail
These results suggest that TCF7L2 variants rs7903146 rs12255372, and rs11196205 are significantly as... DisGeNET Detail
A total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group co... 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
A total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group co... DisGeNET Detail
A total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group co... DisGeNET Detail
NA 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
rs11196205 dbSNP
Genome
hg38
Position
chr10:113,047,288-113,047,288
Variant Type
snv
Reference Allele
G
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))
rs11196205
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0666
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1116
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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