Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554562278
rs1554562278
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		C 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs374703898
rs374703898
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs375113643
rs375113643
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs587777139
rs587777139
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		C 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs587777140
rs587777140
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		C 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs587777141
rs587777141
Entrez Id: 10565;79848
Gene Symbol: ARFGEF1;CSPP1
ARFGEF1;CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		TA 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs587777142
rs587777142
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs587777143
rs587777143
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		C 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs761382780
rs761382780
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		C 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs771203308
rs771203308
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs773954226
rs773954226
Entrez Id: 10565;79848
Gene Symbol: ARFGEF1;CSPP1
ARFGEF1;CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs863225190
rs863225190
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		G 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs863225191
rs863225191
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		AAAGAAAG 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs863225191
rs863225191
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs863225192
rs863225192
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		C 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs863225193
rs863225193
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs863225194
rs863225194
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		C 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs587777138
rs587777138
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		T 0.700 CausalMutation CLINVAR Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. 24360808 2014
dbSNP: rs863225190
rs863225190
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		G 0.700 CausalMutation CLINVAR Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. 24360808 2014
dbSNP: rs1380418532
rs1380418532
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1402669959
rs1402669959
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554604482
rs1554604482
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		TG 0.700 CausalMutation CLINVAR
dbSNP: rs1554614893
rs1554614893
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1563720581
rs1563720581
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		C 0.700 CausalMutation CLINVAR
dbSNP: rs537456518
rs537456518
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
CUI: C3810212
Disease:
JOUBERT SYNDROME 21 		T 0.700 CausalMutation CLINVAR