Disease: JOUBERT SYNDROME 17 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1561376123
rs1561376123
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
CUI: C3553264
Disease:
JOUBERT SYNDROME 17 		G 0.700 CausalMutation CLINVAR Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360 2012