TBX3, T-box transcription factor 3, 6926

N. diseases: 179; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201325654
rs201325654
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C1853238
Disease:
Conotruncal defect 		0.010 GeneticVariation BEFREE Our results indicate that the R608W and R616Q variants of TBX2 as well as the A192T and A562V variants of TBX3 contribute to CTD etiology; this was the first association of variants of TBX2 and TBX3 to CTDs based on a large population. 30223900 2018
dbSNP: rs768160499
rs768160499
Entrez Id: 6926;105370000
Gene Symbol: TBX3;LOC105370000
TBX3;LOC105370000
CUI: C1853238
Disease:
Conotruncal defect 		0.010 GeneticVariation BEFREE Our results indicate that the R608W and R616Q variants of TBX2 as well as the A192T and A562V variants of TBX3 contribute to CTD etiology; this was the first association of variants of TBX2 and TBX3 to CTDs based on a large population. 30223900 2018
dbSNP: rs2242442
rs2242442
Entrez Id: 6926;105370000
Gene Symbol: TBX3;LOC105370000
TBX3;LOC105370000
CUI: C0678222
Disease:
Breast Carcinoma 		0.010 GeneticVariation BEFREE TBX3 was associated with BC risk (rs2242442: OR = 0.76, 95% CI 0.64-0.92, dominant model) and with less aggressive tumour characteristics. 28238063 2017
dbSNP: rs2242442
rs2242442
Entrez Id: 6926;105370000
Gene Symbol: TBX3;LOC105370000
TBX3;LOC105370000
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE TBX3 was associated with BC risk (rs2242442: OR = 0.76, 95% CI 0.64-0.92, dominant model) and with less aggressive tumour characteristics. 28238063 2017
dbSNP: rs59336
rs59336
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C0595989
Disease:
Carcinoma of larynx 		0.010 GeneticVariation BEFREE Univariate cox regression analysis indicated that four SNPs were associated (p < 0.05) with LC OS in the codominant genetic model compared to patients with the homozygous wild-type genotype: rs10088262 G/A (HR = 1.57), rs1665650 A/G (HR = 0.65); rs3802842 C/C (HR = 2.18), and rs59336 T/A and T/T (HR = 0.61 and 2.61, respectively). 28052013 2017
dbSNP: rs1061651
rs1061651
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE RUNX1_rs8130963 (odds ratio (OR) = 2.25; 95 % CI 1.42-3.56; P = 0.0005; dominant model), TBX3_rs8853 (OR = 2.04; 95 % CI 1.38-3.01; P = 0.0003; dominant model), TBX3_rs1061651 (OR= 2.14; 95 % CI1.43-3.18; P = 0.0002; dominant model), TTN_rs12465459 (OR = 2.02; 95 % confidence interval 1.33-3.07; P = 0.0009; dominant model), were the most significantly associated SNPs with BC risk. 26920143 2016
dbSNP: rs1061651
rs1061651
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C0678222
Disease:
Breast Carcinoma 		0.010 GeneticVariation BEFREE RUNX1_rs8130963 (odds ratio (OR) = 2.25; 95 % CI 1.42-3.56; P = 0.0005; dominant model), TBX3_rs8853 (OR = 2.04; 95 % CI 1.38-3.01; P = 0.0003; dominant model), TBX3_rs1061651 (OR= 2.14; 95 % CI1.43-3.18; P = 0.0002; dominant model), TTN_rs12465459 (OR = 2.02; 95 % confidence interval 1.33-3.07; P = 0.0009; dominant model), were the most significantly associated SNPs with BC risk. 26920143 2016
dbSNP: rs8853
rs8853
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C0678222
Disease:
Breast Carcinoma 		0.010 GeneticVariation BEFREE RUNX1_rs8130963 (odds ratio (OR) = 2.25; 95 % CI 1.42-3.56; P = 0.0005; dominant model), TBX3_rs8853 (OR = 2.04; 95 % CI 1.38-3.01; P = 0.0003; dominant model), TBX3_rs1061651 (OR= 2.14; 95 % CI1.43-3.18; P = 0.0002; dominant model), TTN_rs12465459 (OR = 2.02; 95 % confidence interval 1.33-3.07; P = 0.0009; dominant model), were the most significantly associated SNPs with BC risk. 26920143 2016
dbSNP: rs8853
rs8853
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE RUNX1_rs8130963 (odds ratio (OR) = 2.25; 95 % CI 1.42-3.56; P = 0.0005; dominant model), TBX3_rs8853 (OR = 2.04; 95 % CI 1.38-3.01; P = 0.0003; dominant model), TBX3_rs1061651 (OR= 2.14; 95 % CI1.43-3.18; P = 0.0002; dominant model), TTN_rs12465459 (OR = 2.02; 95 % confidence interval 1.33-3.07; P = 0.0009; dominant model), were the most significantly associated SNPs with BC risk. 26920143 2016
dbSNP: rs1061651
rs1061651
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2242442
rs2242442
Entrez Id: 6926;105370000
Gene Symbol: TBX3;LOC105370000
TBX3;LOC105370000
CUI: C0948364
Disease:
Periprosthetic osteolysis 		A 0.700 GeneticVariation GWASCAT The 2018 Otto Aufranc Award: How Does Genome-wide Variation Affect Osteolysis Risk After THA? 30794219 2019
dbSNP: rs8853
rs8853
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C1704272
Disease:
Benign Prostatic Hyperplasia 		C 0.700 GeneticVariation GWASCAT Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA. 30410027 2018
dbSNP: rs8853
rs8853
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C0574785
Disease:
Lower Urinary Tract Symptoms 		C 0.700 GeneticVariation GWASCAT Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA. 30410027 2018
dbSNP: rs515746
rs515746
Entrez Id: 6926;105370000
Gene Symbol: TBX3;LOC105370000
TBX3;LOC105370000
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.700 GeneticVariation GWASDB Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. 23266556 2013
dbSNP: rs551510
rs551510
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.700 GeneticVariation GWASDB Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. 23266556 2013
dbSNP: rs59336
rs59336
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C1319315
Disease:
Adenocarcinoma of large intestine 		T 0.700 GeneticVariation GWASCAT Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. 23266556 2013
dbSNP: rs59336
rs59336
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C0007102
Disease:
Malignant tumor of colon 		T 0.700 GeneticVariation GWASCAT Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. 23266556 2013
dbSNP: rs59336
rs59336
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		T 0.700 GeneticVariation GWASCAT Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. 23266556 2013
dbSNP: rs59336
rs59336
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		T 0.700 GeneticVariation GWASCAT Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. 23266556 2013
dbSNP: rs59336
rs59336
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C0346629
Disease:
Malignant neoplasm of large intestine 		T 0.700 GeneticVariation GWASCAT Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. 23266556 2013
dbSNP: rs59336
rs59336
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C3554460
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		T 0.700 GeneticVariation GWASCAT Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. 23266556 2013
dbSNP: rs59336
rs59336
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C0009404
Disease:
Colorectal Neoplasms 		T 0.700 GeneticVariation GWASCAT Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. 23266556 2013
dbSNP: rs59336
rs59336
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C2677123
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		T 0.700 GeneticVariation GWASCAT Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. 23266556 2013
dbSNP: rs104894376
rs104894376
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C1866994
Disease:
Ulnar-mammary syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1060505020
rs1060505020
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C1866994
Disease:
Ulnar-mammary syndrome 		A 0.700 CausalMutation CLINVAR