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 |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2008-01-01 | no assertion criteria provided | Diabetes mellitus type 2, susceptibility to |
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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
Descrption | Source | Links |
---|---|---|
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>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 (< or = 32... | DisGeNET | Detail |
Two hundred and fifty patients identified as LADA, divided into two subgroups with low (< 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 (< 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 (< 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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