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: rs59336
rs59336
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.810 GeneticVariation BEFREE Of the three additional loci for which evidence of an association in Europeans has been previously described we failed to show an association between rs59336 (12q24.21) and CRC risk. 24737748 2014
dbSNP: rs59336
rs59336
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C0009402
Disease:
Colorectal Carcinoma 		T 0.810 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: C0009402
Disease:
Colorectal Carcinoma 		T 0.810 GeneticVariation GWASDB Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. 23266556 2013
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
dbSNP: rs1565858163
rs1565858163
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C1866994
Disease:
Ulnar-mammary syndrome 		GGC 0.700 CausalMutation CLINVAR
dbSNP: rs397514484
rs397514484
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
CUI: C1866994
Disease:
Ulnar-mammary syndrome 		A 0.700 CausalMutation CLINVAR
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