Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555408401
rs1555408401
Entrez Id: 23241
Gene Symbol: PACS2
PACS2
CUI: C4748070
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66 		0.800 GeneticVariation UNIPROT A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. 29656858 2018
dbSNP: rs1555408401
rs1555408401
Entrez Id: 23241
Gene Symbol: PACS2
PACS2
CUI: C4748070
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1555408401
rs1555408401
Entrez Id: 23241
Gene Symbol: PACS2
PACS2
CUI: C1843367
Disease:
Poor school performance 		A 0.700 GeneticVariation CLINVAR