Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs771866500
rs771866500
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C0431399
Disease:
Familial aplasia of the vermis 		0.010 GeneticVariation BEFREE Here, we report the detailed clinical phenotypes of two sisters with a novel homozygous variant in INPP5E (NM_019892.4: c.1565G>C, NP_063945.2: p.Gly552Ala), expanding the phenotype associated with Joubert syndrome type 1. 29052317 2017
dbSNP: rs1127152
rs1127152
Entrez Id: 9919;56623
Gene Symbol: SEC16A;INPP5E
SEC16A;INPP5E
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs757936530
rs757936530
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		0.700 GeneticVariation UNIPROT Defective ciliogenesis in INPP5E-related Joubert syndrome. 29052317 2017
dbSNP: rs763992407
rs763992407
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		0.700 GeneticVariation UNIPROT Defective ciliogenesis in INPP5E-related Joubert syndrome. 29052317 2017
dbSNP: rs746867724
rs746867724
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs752300607
rs752300607
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs754637179
rs754637179
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs757222534
rs757222534
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs775518991
rs775518991
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		C 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs780882740
rs780882740
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs863225197
rs863225197
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		C 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs863225198
rs863225198
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs863225199
rs863225199
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		C 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs863225200
rs863225200
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs863225201
rs863225201
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs863225202
rs863225202
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		G 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs1431917892
rs1431917892
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C0431399
Disease:
Familial aplasia of the vermis 		G 0.700 GeneticVariation CLINVAR Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 23386033 2013
dbSNP: rs757936530
rs757936530
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		0.700 GeneticVariation UNIPROT Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 23386033 2013
dbSNP: rs757936530
rs757936530
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		0.700 GeneticVariation UNIPROT The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. 23034536 2013
dbSNP: rs763992407
rs763992407
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		0.700 GeneticVariation UNIPROT The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. 23034536 2013
dbSNP: rs763992407
rs763992407
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		0.700 GeneticVariation UNIPROT Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 23386033 2013
dbSNP: rs771866500
rs771866500
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		0.700 GeneticVariation UNIPROT Clinical utility gene card for: Joubert syndrome. 21448235 2011
dbSNP: rs121918130
rs121918130
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C0431399
Disease:
Familial aplasia of the vermis 		A 0.700 GeneticVariation CLINVAR Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 19668216 2009
dbSNP: rs1564430716
rs1564430716
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C0431399
Disease:
Familial aplasia of the vermis 		C 0.700 CausalMutation CLINVAR INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. 19668215 2009
dbSNP: rs757936530
rs757936530
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		0.700 GeneticVariation UNIPROT Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 19668216 2009