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: rs1057519550
rs1057519550
0.925 0.040 15 26621403 missense variant T/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 0
dbSNP: rs1057519550
rs1057519550
0.925 0.040 15 26621403 missense variant T/G snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.700 0