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: rs67486287
rs67486287 		1.000 0.200 19 35034040 missense variant G/A;C;T snv 7.9E-04; 0.14
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Stomatognathic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs724159982
rs724159982 		1.000 0.080 19 35033497 splice acceptor variant A/C snv
CUI: C1858672
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs72550247
rs72550247 		0.925 0.080 19 35039125 missense variant G/A snv 6.0E-05 8.4E-05
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs72550247
rs72550247 		0.925 0.080 19 35039125 missense variant G/A snv 6.0E-05 8.4E-05
CUI: C3809311
Disease: ATRIAL FIBRILLATION, FAMILIAL, 13
ATRIAL FIBRILLATION, FAMILIAL, 13 		0.700 1.000 1 2009 2009
dbSNP: rs72558028
rs72558028 		1.000 0.040 19 35034060 missense variant G/A snv 1.4E-03 1.7E-03
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs759839781
rs759839781 		1.000 0.080 19 35033665 missense variant G/A;T snv
CUI: C1858672
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 1998 2011
dbSNP: rs766910280
rs766910280 		0.882 0.040 19 35033556 missense variant C/T snv 1.2E-05 4.2E-05
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs766910280
rs766910280 		0.882 0.040 19 35033556 missense variant C/T snv 1.2E-05 4.2E-05
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs766910280
rs766910280 		0.882 0.040 19 35033556 missense variant C/T snv 1.2E-05 4.2E-05
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs786205830
rs786205830 		1.000 0.080 19 35033544 missense variant C/T snv
CUI: C1858672
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs931949929
rs931949929 		0.882 0.040 19 35033607 missense variant A/G;T snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs931949929
rs931949929 		0.882 0.040 19 35033607 missense variant A/G;T snv
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs931949929
rs931949929 		0.882 0.040 19 35033607 missense variant A/G;T snv
CUI: C4479236
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 		0.700 0