Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1558005340
rs1558005340
0.851 0.280 1 160127638 frameshift variant C/- del
CUI: C0014544
Disease: Epilepsy
Epilepsy
Nervous System Diseases 0.700 1.000 1 2020 2020
dbSNP: rs1558008455
rs1558008455
0.851 0.280 1 160135284 frameshift variant GT/- delins
CUI: C0014544
Disease: Epilepsy
Epilepsy
Nervous System Diseases 0.700 1.000 1 2020 2020
dbSNP: rs121918612
rs121918612
0.925 0.040 1 160127704 missense variant G/A snv
CUI: C0014544
Disease: Epilepsy
Epilepsy
Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs746795369
rs746795369
0.827 0.080 1 160139969 missense variant C/A;T snv 1.2E-05; 4.0E-06
CUI: C0014544
Disease: Epilepsy
Epilepsy
Nervous System Diseases 0.010 1.000 1 2013 2013