chr10:114808902:G>T Detail (hg19) (TCF7L2)

Information

Genome

Assembly Position
hg19 chr10:114,808,902-114,808,902
hg38 chr10:113,049,143-113,049,143 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001146284.1:c.552+9017G>T
NM_001198529.1:c.552+9017G>T
NM_001198531.1:c.552+9017G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.031
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 tgv40708684 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
0.614 Diabetes Mellitus, Non-Insulin-Dependent Given the overlap between PCOS and T2DM, we investigated the association of tran... BeFree 24157263 Detail
0.030 obesity rs12255372 variant of TCF7L2 gene is protective for obesity in Mexican children. BeFree 22136959 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent [Polymorphic markers TCF7L2 rs12255372 and SLC30A8 rs13266634 confer susceptibil... GAD 20873210 Detail
0.007 Carcinogenesis TCF7L2 rs12255372 (G>T) polymorphism contributes to breast carcinogenesis: ev... BeFree 24266846 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent Two hundred and fifty patients identified as LADA, divided into two subgroups wi... BeFree 20546291 Detail
<0.001 Diabetes Mellitus, Insulin-Dependent Two hundred and fifty patients identified as LADA, divided into two subgroups wi... BeFree 20546291 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent TCF7L2 variants rs12255372 and rs7903146 have been associated with risk of Type ... BeFree 23085767 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent The rs12255372(G/T) and rs7903146(C/T) polymorphisms of the TCF7L2 gene are asso... BeFree 17697858 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent Two hundred and fifty patients identified as LADA, divided into two subgroups wi... BeFree 20546291 Detail
0.013 Hyperlipidemia, Familial Combined We investigated the effect of the TCF7L2 variants, rs7903146 and rs12255372, on ... BeFree 17972059 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent Association of rs12255372 in the TCF7L2 gene with type 2 diabetes mellitus: a me... BeFree 23579632 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent The TCF7L2 rs12255372 polymorphism showed the highest odds ratio (OR) for type 2... BeFree 19033397 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent Association of rs7903146, rs12255372, and rs290487 polymorphisms in TCF7L2 gene ... BeFree 25185411 Detail
0.127 Malignant neoplasm of breast Genetic variations in transcription factor 7-like 2 (TCF7L2) gene: association o... BeFree 21301999 Detail
0.196 Breast Cancer, Familial We investigated the effect of the TCF7L2 rs12255372 variant on familial breast c... BeFree 17109766 Detail
0.004 Diabetes Mellitus, Insulin-Dependent Two hundred and fifty patients identified as LADA, divided into two subgroups wi... BeFree 20546291 Detail
0.004 breast carcinoma Genetic variations in transcription factor 7-like 2 (TCF7L2) gene: association o... BeFree 21301999 Detail
0.004 breast carcinoma Studies on the association between the TCF7L2 rs12255372 polymorphism and breast... BeFree 24266846 Detail
0.127 Malignant neoplasm of breast Studies on the association between the TCF7L2 rs12255372 polymorphism and breast... BeFree 24266846 Detail
<0.001 diabetes mellitus Risk alleles of the TCF7L2 gene showed increased risk of diabetes even when cont... BeFree 18972257 Detail
<0.001 Diabetes Risk alleles of the TCF7L2 gene showed increased risk of diabetes even when cont... BeFree 18972257 Detail
0.014 gestational diabetes Among them, genetic variants in TCF7L2 showed the strongest association with GDM... BeFree 23690305 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent Association of the rs7903146 and rs12255372 polymorphisms in the TCF7L2 gene wit... BeFree 25299103 Detail
0.421 Diabetes Mellitus, Non-Insulin-Dependent In our case-control subjects, susceptibility to type 2 diabetes was replicated i... BeFree 19033397 Detail
0.090 Diabetes Mellitus, Non-Insulin-Dependent In our case-control subjects, susceptibility to type 2 diabetes was replicated i... BeFree 19033397 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent In our case-control subjects, susceptibility to type 2 diabetes was replicated i... BeFree 19033397 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent In our case-control subjects, susceptibility to type 2 diabetes was replicated i... BeFree 19033397 Detail
0.005 gestational diabetes The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... BeFree 23690305 Detail
0.123 gestational diabetes The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... BeFree 23690305 Detail
0.002 gestational diabetes The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... BeFree 23690305 Detail
0.009 gestational diabetes The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... BeFree 23690305 Detail
0.126 gestational diabetes The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... BeFree 23690305 Detail
0.145 gestational diabetes The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... BeFree 23690305 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent We genotyped the TCF7L2 single nucleotide polymorphisms rs7903146 and rs12255372... BeFree 19183934 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
0.018 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
0.614 Diabetes Mellitus, Non-Insulin-Dependent NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001367943.1(TCF7L2):c.552+9017G>T AND Diabetes mellitus type 2, susceptibility to ClinVar Detail
Given the overlap between PCOS and T2DM, we investigated the association of transcription factor-7-l... DisGeNET Detail
rs12255372 variant of TCF7L2 gene is protective for obesity in Mexican children. DisGeNET Detail
[Polymorphic markers TCF7L2 rs12255372 and SLC30A8 rs13266634 confer susceptibility to type 2 diabet... DisGeNET Detail
TCF7L2 rs12255372 (G&gt;T) polymorphism contributes to breast carcinogenesis: evidence from a meta-a... DisGeNET Detail
Two hundred and fifty patients identified as LADA, divided into two subgroups with low (&lt; or = 32... DisGeNET Detail
Two hundred and fifty patients identified as LADA, divided into two subgroups with low (&lt; or = 32... DisGeNET Detail
TCF7L2 variants rs12255372 and rs7903146 have been associated with risk of Type 2 diabetes. DisGeNET Detail
The rs12255372(G/T) and rs7903146(C/T) polymorphisms of the TCF7L2 gene are associated with type 2 d... DisGeNET Detail
Two hundred and fifty patients identified as LADA, divided into two subgroups with low (&lt; or = 32... DisGeNET Detail
We investigated the effect of the TCF7L2 variants, rs7903146 and rs12255372, on FCHL and its compone... DisGeNET Detail
Association of rs12255372 in the TCF7L2 gene with type 2 diabetes mellitus: a meta-analysis. DisGeNET Detail
The TCF7L2 rs12255372 polymorphism showed the highest odds ratio (OR) for type 2 diabetes (OR 1.714 ... DisGeNET Detail
Association of rs7903146, rs12255372, and rs290487 polymorphisms in TCF7L2 gene with type 2 diabetes... DisGeNET Detail
Genetic variations in transcription factor 7-like 2 (TCF7L2) gene: association of TCF7L2 rs12255372(... DisGeNET Detail
We investigated the effect of the TCF7L2 rs12255372 variant on familial breast cancer (BC) risk by m... DisGeNET Detail
Two hundred and fifty patients identified as LADA, divided into two subgroups with low (&lt; or = 32... DisGeNET Detail
Genetic variations in transcription factor 7-like 2 (TCF7L2) gene: association of TCF7L2 rs12255372(... DisGeNET Detail
Studies on the association between the TCF7L2 rs12255372 polymorphism and breast cancer risk have re... DisGeNET Detail
Studies on the association between the TCF7L2 rs12255372 polymorphism and breast cancer risk have re... DisGeNET Detail
Risk alleles of the TCF7L2 gene showed increased risk of diabetes even when controlled for tradition... DisGeNET Detail
Risk alleles of the TCF7L2 gene showed increased risk of diabetes even when controlled for tradition... DisGeNET Detail
Among them, genetic variants in TCF7L2 showed the strongest association with GDM risk, with ORs (95%... DisGeNET Detail
Association of the rs7903146 and rs12255372 polymorphisms in the TCF7L2 gene with type 2 diabetes in... DisGeNET Detail
In our case-control subjects, susceptibility to type 2 diabetes was replicated in TCF7L2 (rs12255372... DisGeNET Detail
In our case-control subjects, susceptibility to type 2 diabetes was replicated in TCF7L2 (rs12255372... DisGeNET Detail
In our case-control subjects, susceptibility to type 2 diabetes was replicated in TCF7L2 (rs12255372... DisGeNET Detail
In our case-control subjects, susceptibility to type 2 diabetes was replicated in TCF7L2 (rs12255372... DisGeNET Detail
The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... DisGeNET Detail
The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... DisGeNET Detail
The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... DisGeNET Detail
The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... DisGeNET Detail
The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... DisGeNET Detail
The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... DisGeNET Detail
We genotyped the TCF7L2 single nucleotide polymorphisms rs7903146 and rs12255372 (previously associa... 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
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
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12255372 dbSNP
Genome
hg19
Position
chr10:114,808,902-114,808,902
Variant Type
snv
Reference Allele
G
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))
rs12255372
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0307
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
514
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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