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: rs1295192882
rs1295192882 		0.925 0.120 2 166288436 splice donor variant C/A snv 4.0E-06
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs1295192882
rs1295192882 		0.925 0.120 2 166288436 splice donor variant C/A snv 4.0E-06
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs1553491169
rs1553491169 		0.925 0.120 2 166288553 missense variant C/T snv
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2009 2012
dbSNP: rs1553491169
rs1553491169 		0.925 0.120 2 166288553 missense variant C/T snv
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2009 2012
dbSNP: rs187558439
rs187558439 		0.882 0.120 2 166204368 stop gained G/A;T snv 8.0E-06; 6.0E-05
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs187558439
rs187558439 		0.882 0.120 2 166204368 stop gained G/A;T snv 8.0E-06; 6.0E-05
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs746241591
rs746241591 		0.925 0.120 2 166204359 splice donor variant C/A;T snv 8.0E-06
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs746241591
rs746241591 		0.925 0.120 2 166204359 splice donor variant C/A;T snv 8.0E-06
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs755067851
rs755067851 		0.925 0.120 2 166311498 splice donor variant C/T snv 4.3E-06 7.0E-06
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs755067851
rs755067851 		0.925 0.120 2 166311498 splice donor variant C/T snv 4.3E-06 7.0E-06
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs773824421
rs773824421 		0.925 0.120 2 166294664 splice acceptor variant T/G snv 4.6E-05
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs773824421
rs773824421 		0.925 0.120 2 166294664 splice acceptor variant T/G snv 4.6E-05
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs794729216
rs794729216 		1.000 0.120 2 166277134 stop gained C/T snv 7.0E-06
CUI: C1855739
Disease: Indifference to Pain, Congenital, Autosomal Recessive
Indifference to Pain, Congenital, Autosomal Recessive 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2006 2007
dbSNP: rs1057518900
rs1057518900 		0.925 0.120 2 166284785 stop gained G/A snv 7.0E-06
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 1979 1979
dbSNP: rs1057518900
rs1057518900 		0.925 0.120 2 166284785 stop gained G/A snv 7.0E-06
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 1979 1979
dbSNP: rs121908910
rs121908910 		0.882 0.120 2 166272731 missense variant G/A;C snv 1.8E-05; 4.4E-06
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs121908910
rs121908910 		0.882 0.120 2 166272731 missense variant G/A;C snv 1.8E-05; 4.4E-06
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs121908918
rs121908918 		1.000 0.080 2 166284506 missense variant T/A snv 2.4E-05 3.5E-05
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs121908920
rs121908920 		1.000 0.080 2 166311573 missense variant T/C snv 2.8E-05 4.2E-05
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs121908921
rs121908921 		0.925 0.080 2 166306531 missense variant G/A;T snv 1.5E-05
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs1553473041
rs1553473041 		0.925 0.120 2 166199288 frameshift variant T/- del
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1553473041
rs1553473041 		0.925 0.120 2 166199288 frameshift variant T/- del
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs180922748
rs180922748 		1.000 0.040 2 166233432 missense variant G/C snv 1.2E-03 1.7E-03
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs199692186
rs199692186 		1.000 0.040 2 166272748 missense variant T/C snv 6.3E-04 5.5E-04
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs200070962
rs200070962 		0.882 0.120 2 166203996 stop gained C/T snv 4.1E-06
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2014 2014