Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519269
rs1057519269
AP3B2 ; CPEB1-AS1
0.925 0.040 15 82679729 splice region variant C/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1057519269
rs1057519269
AP3B2 ; CPEB1-AS1
0.925 0.040 15 82679729 splice region variant C/T snv
CUI: C4310637
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 		0.700 0