Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894721
rs104894721
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		A 0.740 CausalMutation CLINVAR

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

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

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

dbSNP: rs863225150
rs863225150
TGFB1 ; B9D2
CUI: C3280036
Disease: MECKEL SYNDROME, TYPE 10
MECKEL SYNDROME, TYPE 10 		0.700 GeneticVariation UNIPROT

dbSNP: rs281865485
rs281865485
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		C 0.700 CausalMutation CLINVAR

dbSNP: rs281865483
rs281865483
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		TAGCAGCAGC 0.700 CausalMutation CLINVAR

dbSNP: rs1555755308
rs1555755308
TGFB1
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555755308
rs1555755308
TGFB1
CUI: C4748708
Disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555755242
rs1555755242
TGFB1
CUI: C4748708
Disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555755242
rs1555755242
TGFB1
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1487082103
rs1487082103
TGFB1 ; B9D2
CUI: C3280036
Disease: MECKEL SYNDROME, TYPE 10
MECKEL SYNDROME, TYPE 10 		0.700 GeneticVariation UNIPROT

dbSNP: rs1336387628
rs1336387628
TGFB1
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1336387628
rs1336387628
TGFB1
CUI: C4748708
Disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY 		G 0.700 CausalMutation CLINVAR

dbSNP: rs111033611
rs111033611
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		G 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 		G 0.700 CausalMutation CLINVAR

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

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

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: 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: 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: rs2241716
rs2241716
TGFB1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		T 0.700 GeneticVariation GWASDB Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. 24836286

2014