Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.810 GeneticVariation BEFREE In this context, the aim of the study was to explore the role of circulating TGF-β1 and the -509C/T functional promoter polymorphism (rs1800469) within the TGF-β1 gene (TGFB1) in the susceptibility, progression, and prognosis of CRC among Bulgarian male and female patients. 30071009

2018
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		G 0.810 GeneticVariation GWASCAT Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk. 26965516

2016
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		A 0.810 GeneticVariation GWASCAT Common genetic variation in ETV6 is associated with colorectal cancer susceptibility. 27145994

2016
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		G 0.810 GeneticVariation GWASDB Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. 24836286

2014
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		G 0.810 GeneticVariation GWASCAT Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. 24836286

2014
dbSNP: rs4803455
rs4803455
TGFB1
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		0.800 GeneticVariation GWASDB Genome-wide meta-analysis identifies new susceptibility loci for migraine. 23793025

2013
dbSNP: rs4803455
rs4803455
TGFB1
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		0.800 GeneticVariation GWASCAT Genome-wide meta-analysis identifies new susceptibility loci for migraine. 23793025

2013
dbSNP: rs104894721
rs104894721
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.740 GeneticVariation BEFREE Clinical and radiographic evaluation results were compatible with Camurati-Engelmann disease and the diagnosis was confirmed by mutation analysis (c.652C > T [p.Arg218Cys]). 25099136

2014
dbSNP: rs104894721
rs104894721
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.740 GeneticVariation BEFREE Genetic analysis of the TGFB1 gene revealed a heterozygous missense mutation p.R218C in exon 4 of chromosome 19q13.1-q13.3 in a 14-year-old girl who presented with typical symptoms of CED, hyperprolactinaemia and menstrual irregularity. 23729546

2013
dbSNP: rs104894721
rs104894721
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.740 GeneticVariation BEFREE In conclusion, the p.Arg218Cys mutation was shown to contribute to the clinical phenotypes in two pediatric patients with CED. 23503840

2013
dbSNP: rs104894721
rs104894721
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.740 GeneticVariation BEFREE CED is caused by various missense mutations in the TGFB1 gene that encodes TGFbeta1, the most common of which is an arginine-cysteine amino acid change at codon 218 (R218C) in the latency-associated peptide domain of TGFbeta1. 12843182

2003
dbSNP: rs104894721
rs104894721
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		A 0.740 CausalMutation CLINVAR

dbSNP: rs104894719
rs104894719
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.710 GeneticVariation BEFREE We recently reported that three different missense mutations (R218H, R218C, and C225R) of beta1-LAP cause the Camurati-Engelmann disease (CED), an autosomal dominant disorder characterized by hyperosteosis and sclerosis of the diaphysis of the long bones. 11278244

2001
dbSNP: rs104894719
rs104894719
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		G 0.710 CausalMutation CLINVAR

dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		G 0.710 GeneticVariation GWASCAT Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk. 26965516

2016
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		A 0.710 GeneticVariation GWASCAT Common genetic variation in ETV6 is associated with colorectal cancer susceptibility. 27145994

2016
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		G 0.710 GeneticVariation GWASCAT Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. 24836286

2014
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.710 GeneticVariation BEFREE Both TGFβ1 rs1800469 and rs4803455 were associated with colon cancer [odds ratio (OR) = 0.65 and 1.43, 95% CI = 0.51-0.84 and 1.18-1.73, respectively) but not rectal cancer. 21068203

2011
dbSNP: rs200482214
rs200482214
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.710 GeneticVariation BEFREE Camurati-Engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene. 23824952

2013
dbSNP: rs200482214
rs200482214
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		A 0.710 CausalMutation CLINVAR

dbSNP: rs281865484
rs281865484
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.710 GeneticVariation BEFREE Therefore, the Chinese family was diagnosed with CED due to the presence of the E169K mutation. 27959412

2017
dbSNP: rs281865484
rs281865484
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		T 0.710 CausalMutation CLINVAR

dbSNP: rs104894720
rs104894720
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs104894722
rs104894722
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		C 0.700 CausalMutation CLINVAR

dbSNP: rs104894722
rs104894722
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		T 0.700 CausalMutation CLINVAR