Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499765
rs1060499765
PLCB1
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555790846
rs1555790846
PLCB1
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		T 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs1568577135
rs1568577135
PLCB1
CUI: C3150988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 		T 0.700 GeneticVariation CLINVAR