Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs334353
rs334353
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0242383
Disease:
Age related macular degeneration
0.810 GeneticVariation BEFREE Nineteen single nucleotide polymorphisms (SNPs) previously associated with AMD, including rs10490924 (<i>ARMS2/HTRA1</i>), rs10737680 (<i>CFH</i>), rs13278062 (<i>TNFRSF10A</i>), rs1864163 (<i>CETP</i>), rs2230199 (<i>C3</i>), rs3130783 (<i>IER3/DDR1</i>), rs334353 (<i>TGFBR1</i>), rs3812111 (<i>COL10A1</i>), rs429608 (<i>C2/CFB</i>), rs4420638 (<i>APOE</i>), rs4698775 (<i>CFI</i>), rs5749482 (<i>TIMP3</i>), rs6795735 (<i>ADAMTS9</i>), rs8017304 (<i>RAD51B</i>), rs8135665 (<i>SLC16A8</i>), rs920915 (<i>LIPC</i>), rs943080 (<i>VEGFA</i>), rs9542236 (<i>B3GALTL</i>) and rs13081855 (<i>COL8A1/FILIP1L</i>), were genotyped in this cohort. 31819893 2019
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: rs11466445
rs11466445
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.020 GeneticVariation BEFREE We have tested for an association between rs11466445 and risk of CRC using several family-based statistical tests in a new study group comprising members of non-syndromic high risk CRC families sourced from three familial cancer centres, two in Australia and one in Spain. 24981199 2014
dbSNP: rs11466445
rs11466445
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.020 GeneticVariation BEFREE The role of transforming growth factor beta receptor type 1 (TGFBR1) polymorphisms, particularly a coding CGC insertion (rs11466445, TGFBR1*6A/9A) in exon 1, has been extensively investigated in regard to colorectal cancer (CRC) risk. 20368424 2010
dbSNP: rs868
rs868
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0019196
Disease:
Hepatitis C
0.020 GeneticVariation BEFREE Clinical course of hepatitis C after OLT may depend on donor rs868 SNP located in TGFBR1 3'UTR. 25502482 2014
dbSNP: rs868
rs868
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0019196
Disease:
Hepatitis C
0.020 GeneticVariation BEFREE In the rs868 AG heterozygotes, this correlation was stronger and there was a negative correlation between let-7/miR98 and Ishak A score, which is in concordance with the previously demonstrated protective role of this genotype in post-transplant hepatitis C recurrence. 29061957 2017
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: 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: rs11466445
rs11466445
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0699885
Disease:
Carcinoma of bladder
0.010 GeneticVariation BEFREE The distribution of the TGFBR1*6A allele (rs11466445) was also similar among cases and controls, indicating no association with bladder cancer risk. 19004027 2009
dbSNP: rs11466445
rs11466445
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0005684
Disease:
Malignant neoplasm of urinary bladder
0.010 GeneticVariation BEFREE The distribution of the TGFBR1*6A allele (rs11466445) was also similar among cases and controls, indicating no association with bladder cancer risk. 19004027 2009
dbSNP: rs11466445
rs11466445
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE TGFBR1*6A (rs11466445) is a common polymorphic variant of the TGF-beta receptor I gene and has been associated with tumour susceptibility. 19538729 2009
dbSNP: rs11466445
rs11466445
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0005695
Disease:
Bladder Neoplasm
0.010 GeneticVariation BEFREE The distribution of the TGFBR1*6A allele (rs11466445) was also similar among cases and controls, indicating no association with bladder cancer risk. 19004027 2009
dbSNP: rs11568785
rs11568785
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0302592
Disease:
Cervix carcinoma
0.010 GeneticVariation BEFREE Multivariable logistic regression of cancer status in an over-dominant TGFB1 rs1800469/TGFBR1 rs11568785 model demonstrated a 3.03-fold reduction in cervical cancer odds. 31435875 2019
dbSNP: rs11568785
rs11568785
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4048328
Disease:
cervical cancer
0.010 GeneticVariation BEFREE Multivariable logistic regression of cancer status in an over-dominant TGFB1 rs1800469/TGFBR1 rs11568785 model demonstrated a 3.03-fold reduction in cervical cancer odds. 31435875 2019
dbSNP: rs11568785
rs11568785
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE Multivariable logistic regression of cancer status in an over-dominant TGFB1 rs1800469/TGFBR1 rs11568785 model demonstrated a 3.03-fold reduction in cervical cancer odds. 31435875 2019
dbSNP: rs11568785
rs11568785
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0007847
Disease:
Malignant tumor of cervix
0.010 GeneticVariation BEFREE Multivariable logistic regression of cancer status in an over-dominant TGFB1 rs1800469/TGFBR1 rs11568785 model demonstrated a 3.03-fold reduction in cervical cancer odds. 31435875 2019
dbSNP: rs11568785
rs11568785
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE Multivariable logistic regression of cancer status in an over-dominant TGFB1 rs1800469/TGFBR1 rs11568785 model demonstrated a 3.03-fold reduction in cervical cancer odds. 31435875 2019
dbSNP: rs11568810
rs11568810
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C1443892
Disease:
Chronic Q Fever
0.010 GeneticVariation BEFREE SNPs in MMP7 (rs11568810) (p<0.05) and MMP9 (rs17576) (p<0.05) were more common in patients with chronic Q fever. 28179203 2017
dbSNP: rs1178346731
rs1178346731
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE TGF-β signaling in breast cancer cells was modulated by expression of kinase-inactive TGFBR1-K232R (dnTGFBR1) or constitutive-active TGFBR1-T204D (caTGFBR1) receptor mutants. 29921235 2018