Source: CURATED ×
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: rs121909580
rs121909580 		0.882 0.080 20 63350572 missense variant G/A;C snv
CUI: C1838049
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 1
Epilepsy, Nocturnal Frontal Lobe, Type 1 		Nervous System Diseases 0.800 1.000 3 1995 2003
dbSNP: rs28931591
rs28931591 		0.882 0.160 20 63350560 missense variant G/A snv
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		Nervous System Diseases 0.720 1.000 5 1999 2012
dbSNP: rs28931591
rs28931591 		0.882 0.160 20 63350560 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 9 1999 2013
dbSNP: rs2273500
rs2273500 		0.882 0.080 20 63355597 splice acceptor variant T/C snv 0.16 0.16
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs6062901
rs6062901 		20 63348909 intron variant G/A snv 0.71
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs121909580
rs121909580 		0.882 0.080 20 63350572 missense variant G/A;C snv
CUI: C1835905
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 4
Epilepsy, Nocturnal Frontal Lobe, Type 4 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs281865066
rs281865066 		1.000 0.080 20 63350533 missense variant G/A snv
CUI: C1835905
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 4
Epilepsy, Nocturnal Frontal Lobe, Type 4 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs281865067
rs281865067 		1.000 0.040 20 63350538 inframe insertion -/CAG delins
CUI: C1854335
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 3
Epilepsy, Nocturnal Frontal Lobe, Type 3 		Nervous System Diseases 0.700 0
dbSNP: rs28931591
rs28931591 		0.882 0.160 20 63350560 missense variant G/A snv
CUI: C0271583
Disease: ACTH Deficiency, Isolated
ACTH Deficiency, Isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs28931591
rs28931591 		0.882 0.160 20 63350560 missense variant G/A snv
CUI: C1838049
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 1
Epilepsy, Nocturnal Frontal Lobe, Type 1 		Nervous System Diseases 0.700 0