Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10512263
rs10512263
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0699791
Disease:
Stomach Carcinoma
0.020 GeneticVariation BEFREE In short, we concluded that two polymorphisms (rs334348, rs10512263) in <i>TGFBR1</i> were associated with risk of gastric cancer, and that <i>TLR4</i> rs1927911 and <i>TGFBR1</i> rs10512263 were associated with clinical outcomes of gastric cancer patients. 30479570 2018
dbSNP: rs10512263
rs10512263
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.020 GeneticVariation BEFREE In short, we concluded that two polymorphisms (rs334348, rs10512263) in <i>TGFBR1</i> were associated with risk of gastric cancer, and that <i>TLR4</i> rs1927911 and <i>TGFBR1</i> rs10512263 were associated with clinical outcomes of gastric cancer patients. 30479570 2018
dbSNP: rs10512263
rs10512263
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0699791
Disease:
Stomach Carcinoma
0.020 GeneticVariation BEFREE After combining the two stages, we found that these two SNPs were associated with a significantly increased risk of gastr</span>ic cancer in dominant models [adjusted odds ratio (OR) = 1.36, 95% confidence interval (CI): 1.14-1.63 for rs6478974 AT/AA vs. TT; adjusted OR = 1.26, 95% CI: 1.05-1.50 for rs10512263 CT/CC vs. TT] or additive model (adjusted OR = 1.23, 95% CI: 1.08-1.40 for rs6478974). 22911926 2014
dbSNP: rs10512263
rs10512263
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.020 GeneticVariation BEFREE After combining the two stages, we found that these two SNPs were associated with a significantly increased risk of gastr</span>ic cancer in dominant models [adjusted odds ratio (OR) = 1.36, 95% confidence interval (CI): 1.14-1.63 for rs6478974 AT/AA vs. TT; adjusted OR = 1.26, 95% CI: 1.05-1.50 for rs10512263 CT/CC vs. TT] or additive model (adjusted OR = 1.23, 95% CI: 1.08-1.40 for rs6478974). 22911926 2014
dbSNP: rs10512263
rs10512263
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0476089
Disease:
Endometrial Carcinoma
0.010 GeneticVariation BEFREE Classification and regression tree (CART) demonstrated that women carrying both the genotypes of TGFBR1 rs6478974 TT and rs10512263 TC/CC had the highest risk of EC (aOR = 7.86, 95% CI = 3.42-18.07, P<0.0001). 27171242 2016
dbSNP: rs10512263
rs10512263
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0007103
Disease:
Malignant neoplasm of endometrium
0.010 GeneticVariation BEFREE Classification and regression tree (CART) demonstrated that women carrying both the genotypes of TGFBR1 rs6478974 TT and rs10512263 TC/CC had the highest risk of EC (aOR = 7.86, 95% CI = 3.42-18.07, P<0.0001). 27171242 2016
dbSNP: rs1057524497
rs1057524497
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection
T 0.700 CausalMutation CLINVAR
dbSNP: rs1060502040
rs1060502040
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection
T 0.700 CausalMutation CLINVAR
dbSNP: rs10733710
rs10733710
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0007103
Disease:
Malignant neoplasm of endometrium
0.010 GeneticVariation BEFREE Logistic regression (LR) showed that the genetic variants of TGFB1 rs1800469, TGFBR1 rs6478974 and rs10733710, TWIST1 rs4721745 were associated with decreased EC risk, and these four loci showed a dose-dependent effect (Ptrend < 0.0001). 27171242 2016
dbSNP: rs10733710
rs10733710
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0476089
Disease:
Endometrial Carcinoma
0.010 GeneticVariation BEFREE Logistic regression (LR) showed that the genetic variants of TGFB1 rs1800469, TGFBR1 rs6478974 and rs10733710, TWIST1 rs4721745 were associated with decreased EC risk, and these four loci showed a dose-dependent effect (Ptrend < 0.0001). 27171242 2016
dbSNP: rs10988706
rs10988706
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Additionally, gene-smoking interactions for rs11874392, rs10988706 and rs6478972 were also found to enhance the risk of CRC at both stages, with P for multiplicative interaction equal to 1.162×10(-6), 8.574×10(-8) and 9.410×10(-8) in combined analyses, respectively. 23275154 2013
dbSNP: rs111426349
rs111426349
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs111426349
rs111426349
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
0.800 GeneticVariation UNIPROT Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. 22113417 2012
dbSNP: rs111426349
rs111426349
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
0.800 GeneticVariation UNIPROT Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. 16791849 2006
dbSNP: rs111426349
rs111426349
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528 2014
dbSNP: rs111426349
rs111426349
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs111426349
rs111426349
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs111426349
rs111426349
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes. 21522183 2011
dbSNP: rs111426349
rs111426349
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340 2014
dbSNP: rs111426349
rs111426349
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
0.800 GeneticVariation UNIPROT Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994 2006
dbSNP: rs111426349
rs111426349
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
T 0.800 CausalMutation CLINVAR
dbSNP: rs111426349
rs111426349
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
0.800 GeneticVariation UNIPROT FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. 16596670 2006
dbSNP: rs111426349
rs111426349
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
0.800 GeneticVariation UNIPROT Evaluation of the adolescent or adult with some features of Marfan syndrome. 22237449 2012
dbSNP: rs111426349
rs111426349
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
0.800 GeneticVariation UNIPROT A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 15731757 2005
dbSNP: rs111426349
rs111426349
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4551955
Disease:
Loeys-Dietz Syndrome, Type 1a
0.800 GeneticVariation UNIPROT Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients. 19883511 2009