Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909323
rs121909323
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0683322
Disease:
Mental impairment
A 0.700 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478 2015
dbSNP: rs786200962
rs786200962
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0683322
Disease:
Mental impairment
G 0.700 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478 2015