Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918128
rs121918128
INPP5E
0.800 GeneticVariation UNIPROT Defective ciliogenesis in INPP5E-related Joubert syndrome. 29052317

2017
dbSNP: rs121918129
rs121918129
INPP5E
0.800 GeneticVariation UNIPROT Defective ciliogenesis in INPP5E-related Joubert syndrome. 29052317

2017
dbSNP: rs121918130
rs121918130
INPP5E
0.800 GeneticVariation UNIPROT Defective ciliogenesis in INPP5E-related Joubert syndrome. 29052317

2017
dbSNP: rs121918129
rs121918129
INPP5E
T 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs746212325
rs746212325
INPP5E
T 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs121918128
rs121918128
INPP5E
0.800 GeneticVariation UNIPROT The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. 23034536

2013
dbSNP: rs121918128
rs121918128
INPP5E
0.800 GeneticVariation UNIPROT Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 23386033

2013
dbSNP: rs121918129
rs121918129
INPP5E
0.800 GeneticVariation UNIPROT The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. 23034536

2013
dbSNP: rs121918129
rs121918129
INPP5E
0.800 GeneticVariation UNIPROT Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 23386033

2013
dbSNP: rs121918130
rs121918130
INPP5E
0.800 GeneticVariation UNIPROT The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. 23034536

2013
dbSNP: rs121918130
rs121918130
INPP5E
0.800 GeneticVariation UNIPROT Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 23386033

2013
dbSNP: rs121918129
rs121918129
INPP5E
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Joubert syndrome. 21448235

2011
dbSNP: rs746212325
rs746212325
INPP5E
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Joubert syndrome. 21448235

2011
dbSNP: rs121918128
rs121918128
INPP5E
0.800 GeneticVariation UNIPROT Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 19668216

2009
dbSNP: rs121918129
rs121918129
INPP5E
0.800 GeneticVariation UNIPROT Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 19668216

2009
dbSNP: rs121918130
rs121918130
INPP5E
0.800 GeneticVariation UNIPROT Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 19668216

2009
dbSNP: rs121918128
rs121918128
INPP5E
T 0.800 CausalMutation CLINVAR

dbSNP: rs121918130
rs121918130
INPP5E
A 0.800 CausalMutation CLINVAR

dbSNP: rs757936530
rs757936530
INPP5E
0.700 GeneticVariation UNIPROT Defective ciliogenesis in INPP5E-related Joubert syndrome. 29052317

2017
dbSNP: rs763992407
rs763992407
INPP5E
0.700 GeneticVariation UNIPROT Defective ciliogenesis in INPP5E-related Joubert syndrome. 29052317

2017
dbSNP: rs746867724
rs746867724
INPP5E
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs752300607
rs752300607
INPP5E
T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs754637179
rs754637179
INPP5E
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs757222534
rs757222534
INPP5E
A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs775518991
rs775518991
INPP5E
C 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015