Source: CURATED

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: rs1057519548
rs1057519548
HCN1
0.925 0.040 5 45645575 missense variant C/G snv
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.800 0
dbSNP: rs1057519548
rs1057519548
HCN1
0.925 0.040 5 45645575 missense variant C/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0