Disease: Hyperekplexia and Epilepsy ×
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: rs121918361
rs121918361 		1.000 0.120 X 63724557 missense variant C/G snv
CUI: C1845102
Disease: Hyperekplexia and Epilepsy
Hyperekplexia and Epilepsy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 3 2004 2015
dbSNP: rs1135401795
rs1135401795 		1.000 0.120 X 63674097 stop gained G/A snv
CUI: C1845102
Disease: Hyperekplexia and Epilepsy
Hyperekplexia and Epilepsy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 4 2008 2018
dbSNP: rs1569476483
rs1569476483 		1.000 0.120 X 63697124 splice donor variant C/T snv
CUI: C1845102
Disease: Hyperekplexia and Epilepsy
Hyperekplexia and Epilepsy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 2015 2017
dbSNP: rs1556358991
rs1556358991 		1.000 0.120 X 63674063 stop gained C/T snv
CUI: C1845102
Disease: Hyperekplexia and Epilepsy
Hyperekplexia and Epilepsy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1556389083
rs1556389083 		1.000 0.120 X 63697145 missense variant C/G snv
CUI: C1845102
Disease: Hyperekplexia and Epilepsy
Hyperekplexia and Epilepsy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1556401714
rs1556401714 		1.000 0.120 X 63706328 missense variant C/T snv
CUI: C1845102
Disease: Hyperekplexia and Epilepsy
Hyperekplexia and Epilepsy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1556401730
rs1556401730 		1.000 0.120 X 63706329 missense variant G/A snv
CUI: C1845102
Disease: Hyperekplexia and Epilepsy
Hyperekplexia and Epilepsy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1569458475
rs1569458475 		1.000 0.120 X 63674061 stop gained G/A snv
CUI: C1845102
Disease: Hyperekplexia and Epilepsy
Hyperekplexia and Epilepsy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs397514460
rs397514460 		1.000 0.120 X 63785142 stop gained G/A;T snv
CUI: C1845102
Disease: Hyperekplexia and Epilepsy
Hyperekplexia and Epilepsy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0