Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1135401818
rs1135401818
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C3553661
Disease:
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
T 0.700 GeneticVariation CLINVAR Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes. 24738973 2015
dbSNP: rs1553238311
rs1553238311
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C3553661
Disease:
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
A 0.700 GeneticVariation CLINVAR
dbSNP: rs863224853
rs863224853
Entrez Id: 23261
Gene Symbol: CAMTA1
CAMTA1
CUI: C3553661
Disease:
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
G 0.700 GeneticVariation CLINVAR