Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918198
rs121918198
RPGRIP1L
G 0.710 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs121918198
rs121918198
RPGRIP1L
G 0.710 CausalMutation CLINVAR Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 21866095

2011
dbSNP: rs121918198
rs121918198
RPGRIP1L
G 0.710 CausalMutation CLINVAR A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. 19430481

2009
dbSNP: rs121918198
rs121918198
RPGRIP1L
G 0.710 CausalMutation CLINVAR RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. 18565097

2008
dbSNP: rs121918198
rs121918198
RPGRIP1L
0.710 GeneticVariation BEFREE Our studies confirm that a T615P mutation represents the most common mutation in the RPGRIP1L gene causing disease in about 8-10% of JS type B patients negative for NPHP1, NPHP6, or AHI1 mutations. 17960139

2007
dbSNP: rs121918198
rs121918198
RPGRIP1L
G 0.710 CausalMutation CLINVAR The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. 17558409

2007
dbSNP: rs121918198
rs121918198
RPGRIP1L
G 0.710 CausalMutation CLINVAR Our studies confirm that a T615P mutation represents the most common mutation in the RPGRIP1L gene causing disease in about 8-10% of JS type B patients negative for NPHP1, NPHP6, or AHI1 mutations. 17960139

2007
dbSNP: rs121918198
rs121918198
RPGRIP1L
G 0.710 CausalMutation CLINVAR Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. 17558407

2007