Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060505038
rs1060505038
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K
CUI: C4479410
Disease:
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		0.800 GeneticVariation UNIPROT Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy. 28190459 2017
dbSNP: rs1060505038
rs1060505038
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K
CUI: C4479410
Disease:
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		0.800 GeneticVariation UNIPROT Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. 28190456 2017
dbSNP: rs1060505039
rs1060505039
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K
CUI: C4479410
Disease:
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		0.800 GeneticVariation UNIPROT Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. 28190456 2017
dbSNP: rs1060505039
rs1060505039
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K
CUI: C4479410
Disease:
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		0.800 GeneticVariation UNIPROT Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy. 28190459 2017
dbSNP: rs749383757
rs749383757
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K
CUI: C4479410
Disease:
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		0.800 GeneticVariation UNIPROT Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. 28190456 2017
dbSNP: rs749383757
rs749383757
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K
CUI: C4479410
Disease:
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		0.800 GeneticVariation UNIPROT Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy. 28190459 2017
dbSNP: rs750781027
rs750781027
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K
CUI: C4479410
Disease:
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		0.800 GeneticVariation UNIPROT Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. 28190456 2017
dbSNP: rs750781027
rs750781027
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K
CUI: C4479410
Disease:
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		0.800 GeneticVariation UNIPROT Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy. 28190459 2017
dbSNP: rs761612652
rs761612652
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K
CUI: C4479410
Disease:
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		0.800 GeneticVariation UNIPROT Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. 28190456 2017
dbSNP: rs761612652
rs761612652
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K
CUI: C4479410
Disease:
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		0.800 GeneticVariation UNIPROT Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy. 28190459 2017
dbSNP: rs1060505038
rs1060505038
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K
CUI: C4479410
Disease:
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1060505039
rs1060505039
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K
CUI: C4479410
Disease:
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		C 0.800 CausalMutation CLINVAR
dbSNP: rs749383757
rs749383757
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K
CUI: C4479410
Disease:
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		T 0.800 CausalMutation CLINVAR
dbSNP: rs750781027
rs750781027
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K
CUI: C4479410
Disease:
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		T 0.800 CausalMutation CLINVAR
dbSNP: rs761612652
rs761612652
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K
CUI: C4479410
Disease:
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		T 0.800 CausalMutation CLINVAR
dbSNP: rs766046008
rs766046008
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K
CUI: C4479410
Disease:
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		C 0.800 CausalMutation CLINVAR
dbSNP: rs766046008
rs766046008
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K
CUI: C4479410
Disease:
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		0.800 GeneticVariation UNIPROT
dbSNP: rs939563
rs939563
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K
CUI: C0200665
Disease:
Platelet mean volume determination (procedure) 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1060505040
rs1060505040
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K
CUI: C4479410
Disease:
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		C 0.700 CausalMutation CLINVAR
dbSNP: rs993849342
rs993849342
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K
CUI: C4479410
Disease:
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		0.700 GeneticVariation UNIPROT
dbSNP: rs1477800256
rs1477800256
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K
CUI: C0699893
Disease:
Skin carcinoma 		0.010 GeneticVariation BEFREE All of the investigated variants showed positive associations with NMSC, with consistent significant results obtained for V60L, D84E, V92M, R151C, R160W, R163Q and D294H: SOR (95%CI) ranged from 1.42 (1.19-1.70) for V60L to 2.66 (1.06-6.65) for D84E variant. 26103569 2015
dbSNP: rs1477800256
rs1477800256
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K
CUI: C0025202
Disease:
melanoma 		0.010 GeneticVariation BEFREE Melanoma risk increased with presence of any of the main MC1R variants: the SOR for each variant ranged from 1.47 (95%CI: 1.17-1.84) for V60L to 2.74 (1.53-4.89) for D84E. 24917043 2015