Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777654
rs587777654
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3
CUI: C4014780
Disease:
OROFACIODIGITAL SYNDROME XIV 		0.800 GeneticVariation UNIPROT The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. 24997988 2014
dbSNP: rs587777654
rs587777654
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3
CUI: C4014780
Disease:
OROFACIODIGITAL SYNDROME XIV 		C 0.800 CausalMutation CLINVAR
dbSNP: rs150291837
rs150291837
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3
CUI: C0431399
Disease:
Familial aplasia of the vermis 		T 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs587777653
rs587777653
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3
CUI: C0431399
Disease:
Familial aplasia of the vermis 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs863225151
rs863225151
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3
CUI: C0431399
Disease:
Familial aplasia of the vermis 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs1174615027
rs1174615027
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3
CUI: C4014780
Disease:
OROFACIODIGITAL SYNDROME XIV 		T 0.700 CausalMutation CLINVAR
dbSNP: rs149366137
rs149366137
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3
CUI: C4014780
Disease:
OROFACIODIGITAL SYNDROME XIV 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1565237232
rs1565237232
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3
CUI: C4014780
Disease:
OROFACIODIGITAL SYNDROME XIV 		G 0.700 CausalMutation CLINVAR
dbSNP: rs587777653
rs587777653
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3
CUI: C4014780
Disease:
OROFACIODIGITAL SYNDROME XIV 		A 0.700 CausalMutation CLINVAR