Disease: Epilepsy, Rolandic ×
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: rs1238779318
rs1238779318 		1.000 0.040 16 9938274 missense variant C/G;T snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1250662891
rs1250662891 		0.925 0.040 16 10180176 missense variant G/C snv 4.0E-06
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1439688451
rs1439688451 		1.000 0.040 16 9798433 missense variant C/G;T snv 4.0E-06
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555482933
rs1555482933 		0.925 0.040 16 9764834 missense variant T/A snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555488144
rs1555488144 		0.925 0.040 16 9798454 missense variant C/T snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555491648
rs1555491648 		0.925 0.040 16 9822337 missense variant G/A snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555494676
rs1555494676 		1.000 0.040 16 9840657 inframe deletion AAG/- delins
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555496111
rs1555496111 		0.925 0.040 16 9849778 missense variant A/G snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs397518465
rs397518465 		0.925 0.040 16 9937958 splice donor variant C/A;T snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs587780353
rs587780353 		1.000 0.040 16 9938419 missense variant A/T snv 4.4E-05 4.2E-05
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs779989663
rs779989663 		0.925 0.040 16 9841092 missense variant A/T snv 4.8E-05 7.0E-06
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.010 1.000 1 2018 2018