Disease: JOUBERT SYNDROME 10 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs312262894
rs312262894
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C2749019
Disease:
JOUBERT SYNDROME 10 (disorder) 		T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs863225211
rs863225211
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C2749019
Disease:
JOUBERT SYNDROME 10 (disorder) 		T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs863225212
rs863225212
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C2749019
Disease:
JOUBERT SYNDROME 10 (disorder) 		T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs863225213
rs863225213
Entrez Id: 6399;8481
Gene Symbol: TRAPPC2;OFD1
TRAPPC2;OFD1
CUI: C2749019
Disease:
JOUBERT SYNDROME 10 (disorder) 		G 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs312262830
rs312262830
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C2749019
Disease:
JOUBERT SYNDROME 10 (disorder) 		T 0.700 CausalMutation CLINVAR CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. 24884629 2014
dbSNP: rs312262830
rs312262830
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C2749019
Disease:
JOUBERT SYNDROME 10 (disorder) 		T 0.700 CausalMutation CLINVAR Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. 18546297 2008
dbSNP: rs312262895
rs312262895
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C2749019
Disease:
JOUBERT SYNDROME 10 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs398122866
rs398122866
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C2749019
Disease:
JOUBERT SYNDROME 10 (disorder) 		T 0.700 CausalMutation CLINVAR