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: 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: 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 6 1999 2012
dbSNP: rs1044396
rs1044396 		0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.040 1.000 4 2004 2016
dbSNP: rs1044396
rs1044396 		0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.030 1.000 3 2012 2015
dbSNP: rs1044396
rs1044396 		0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.030 1.000 3 2012 2015
dbSNP: rs1044396
rs1044396 		0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.030 1.000 3 2012 2015
dbSNP: rs121909580
rs121909580 		0.882 0.080 20 63350572 missense variant G/A;C snv
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		Nervous System Diseases 0.030 1.000 3 1999 2006
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: rs1044396
rs1044396 		0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.020 1.000 2 2010 2015
dbSNP: rs2236196
rs2236196 		1.000 0.080 20 63346204 3 prime UTR variant G/A;C snv 0.71
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.020 1.000 2 2005 2009
dbSNP: rs1044396
rs1044396 		0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012
dbSNP: rs1044396
rs1044396 		0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs1044396
rs1044396 		0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2020 2020
dbSNP: rs1044396
rs1044396 		0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05
CUI: C0497327
Disease: Dementia
Dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs1044396
rs1044396 		0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs1044396
rs1044396 		0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2020 2020
dbSNP: rs1044396
rs1044396 		0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2020 2020
dbSNP: rs1044396
rs1044396 		0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2015 2015
dbSNP: rs1044396
rs1044396 		0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05
CUI: C0004936
Disease: Mental disorders
Mental disorders 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs1044396
rs1044396 		0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012
dbSNP: rs1044396
rs1044396 		0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05
CUI: C4543822
Disease: Gaming disorder
Gaming disorder 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs1044396
rs1044396 		0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs2229959
rs2229959 		0.882 0.080 20 63350202 synonymous variant C/A;T snv 0.84; 1.3E-05
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2020 2020
dbSNP: rs2229959
rs2229959 		0.882 0.080 20 63350202 synonymous variant C/A;T snv 0.84; 1.3E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2020 2020
dbSNP: rs2229959
rs2229959 		0.882 0.080 20 63350202 synonymous variant C/A;T snv 0.84; 1.3E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2020 2020