Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750436680
rs750436680
TGFB1 ; B9D2
CUI: C3280036
Disease: MECKEL SYNDROME, TYPE 10
MECKEL SYNDROME, TYPE 10 		0.700 GeneticVariation UNIPROT Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015