Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918128
rs121918128
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		0.800 GeneticVariation UNIPROT Defective ciliogenesis in INPP5E-related Joubert syndrome. 29052317 2017
dbSNP: rs121918129
rs121918129
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		0.800 GeneticVariation UNIPROT Defective ciliogenesis in INPP5E-related Joubert syndrome. 29052317 2017
dbSNP: rs121918130
rs121918130
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		0.800 GeneticVariation UNIPROT Defective ciliogenesis in INPP5E-related Joubert syndrome. 29052317 2017
dbSNP: rs121918129
rs121918129
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		T 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs746212325
rs746212325
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		T 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs121918128
rs121918128
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		0.800 GeneticVariation UNIPROT The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. 23034536 2013
dbSNP: rs121918128
rs121918128
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		0.800 GeneticVariation UNIPROT Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 23386033 2013
dbSNP: rs121918129
rs121918129
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		0.800 GeneticVariation UNIPROT The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. 23034536 2013
dbSNP: rs121918129
rs121918129
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		0.800 GeneticVariation UNIPROT Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 23386033 2013
dbSNP: rs121918130
rs121918130
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		0.800 GeneticVariation UNIPROT The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. 23034536 2013
dbSNP: rs121918130
rs121918130
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		0.800 GeneticVariation UNIPROT Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 23386033 2013
dbSNP: rs121918129
rs121918129
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Joubert syndrome. 21448235 2011
dbSNP: rs746212325
rs746212325
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Joubert syndrome. 21448235 2011
dbSNP: rs121918128
rs121918128
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		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
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		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
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		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
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121918130
rs121918130
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C4551568
Disease:
Joubert syndrome 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121918127
rs121918127
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C1857802
Disease:
MORM syndrome 		0.710 GeneticVariation BEFREE Whole-exome sequencing identified the likely causes of disease as a novel homozygous frameshift mutation (NM_152384.2: c.196delA; p.(Arg66Glufs*12); family 1) in BBS5, and a nonsense mutation (NM_019892.5:c.1879C>T; p.Gln627*; family 2) in INPP5E, previously reported in an extended Pakistani family with MORM syndrome. 31173343 2019
dbSNP: rs121918127
rs121918127
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C1857802
Disease:
MORM syndrome 		A 0.710 CausalMutation CLINVAR
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