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: rs1012068
rs1012068 		0.827 0.160 22 31869917 intron variant T/G snv 0.37
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		Digestive System Diseases; Infections 0.800 1.000 1 2011 2011
dbSNP: rs5994434
rs5994434 		22 31833663 intron variant G/A;C snv
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.800 1.000 1 2012 2012
dbSNP: rs1012068
rs1012068 		0.827 0.160 22 31869917 intron variant T/G snv 0.37
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.760 1.000 7 2013 2019
dbSNP: rs142540948
rs142540948 		1.000 0.040 22 31857530 missense variant A/C snv 2.8E-04 1.7E-04
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 7 2013 2016
dbSNP: rs564667614
rs564667614 		1.000 0.040 22 31843170 missense variant C/T snv 1.0E-04 1.4E-04
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 7 2013 2016
dbSNP: rs578244490
rs578244490 		1.000 0.040 22 31870720 missense variant C/T snv 8.2E-05 2.8E-05
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 7 2013 2016
dbSNP: rs754608531
rs754608531 		1.000 0.040 22 31857506 missense variant A/C snv 3.7E-05 4.9E-05
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 7 2013 2016
dbSNP: rs1569254004
rs1569254004 		1.000 0.040 22 31906047 frameshift variant -/CA delins
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 3 2013 2015
dbSNP: rs541024038
rs541024038 		0.925 0.040 22 31843106 stop gained C/G;T snv 4.0E-06
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 3 2013 2016
dbSNP: rs587776973
rs587776973 		0.925 0.040 22 31815209 stop gained C/G;T snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 2013 2015
dbSNP: rs587776973
rs587776973 		0.925 0.040 22 31815209 stop gained C/G;T snv 4.0E-06
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.700 1.000 3 2013 2017
dbSNP: rs1060501488
rs1060501488 		1.000 0.040 22 31778119 stop gained G/A snv
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.700 1.000 2 2013 2016
dbSNP: rs1261611694
rs1261611694 		1.000 0.040 22 31873333 splice donor variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 2 2013 2013
dbSNP: rs1555885023
rs1555885023 		1.000 0.040 22 31814991 splice acceptor variant G/T snv
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.700 1.000 2 2013 2013
dbSNP: rs1556526609
rs1556526609 		1.000 0.040 22 31766584 splice acceptor variant G/A snv
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 2 2013 2013
dbSNP: rs587776973
rs587776973 		0.925 0.040 22 31815209 stop gained C/G;T snv 4.0E-06
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 2 2013 2015
dbSNP: rs587776975
rs587776975 		0.925 0.040 22 31893655 stop gained G/A snv
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.700 1.000 2 2013 2014
dbSNP: rs587776976
rs587776976 		1.000 0.040 22 31792765 stop gained C/T snv
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 2 2013 2015
dbSNP: rs587777459
rs587777459 		0.882 0.040 22 31815005 stop gained C/G;T snv 2.0E-05
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 2 2013 2014
dbSNP: rs587777459
rs587777459 		0.882 0.040 22 31815005 stop gained C/G;T snv 2.0E-05
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.700 1.000 2 2013 2014
dbSNP: rs757511744
rs757511744 		1.000 0.040 22 31806168 stop gained C/G;T snv 4.0E-06
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 2 2015 2016
dbSNP: rs768241563
rs768241563 		0.925 0.040 22 31754942 stop gained C/G snv 4.0E-06 7.0E-06
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.700 1.000 2 2013 2014
dbSNP: rs768241563
rs768241563 		0.925 0.040 22 31754942 stop gained C/G snv 4.0E-06 7.0E-06
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 2 2013 2014
dbSNP: rs772872014
rs772872014 		0.925 0.040 22 31792777 stop gained C/T snv
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 2 2014 2016
dbSNP: rs786205703
rs786205703 		0.925 0.040 22 31778103 stop gained C/T snv
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.700 1.000 2 2014 2017