Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746212325
rs746212325
INPP5E
T 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs746212325
rs746212325
INPP5E
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Joubert syndrome. 21448235

2011