Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555755308
rs1555755308
TGFB1
CUI: C4748708
Disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY 		A 0.700 GeneticVariation CLINVAR Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy. 29483653

2018
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: rs1555755308
rs1555755308
TGFB1
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		A 0.700 CausalMutation CLINVAR