Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607020
rs267607020
RPGRIP1L
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Joubert syndrome. 21448235

2011
dbSNP: rs267607020
rs267607020
RPGRIP1L
0.800 GeneticVariation UNIPROT Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260

2010
dbSNP: rs267607020
rs267607020
RPGRIP1L
G 0.800 CausalMutation CLINVAR