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: 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: rs755204
rs755204 		20 63362813 intron variant G/A snv 8.6E-02
CUI: C0042571
Disease: Vertigo
Vertigo 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs755204
rs755204 		20 63362813 intron variant G/A snv 8.6E-02
CUI: C0012833
Disease: Dizziness
Dizziness 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2014 2014
dbSNP: rs772253190
rs772253190 		1.000 0.040 20 63350552 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs772720363
rs772720363 		1.000 0.040 20 63350819 missense variant C/T snv 4.0E-06
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs772720363
rs772720363 		1.000 0.040 20 63350819 missense variant C/T snv 4.0E-06
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs928557634
rs928557634 		1.000 0.040 20 63350381 missense variant C/A snv
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		Nervous System Diseases 0.010 1.000 1 2002 2002
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: 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: 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: rs1044394
rs1044394 		1.000 0.080 20 63350733 synonymous variant A/G snv 0.92 0.81
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2011 2011
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
dbSNP: rs2273500
rs2273500 		0.882 0.080 20 63355597 splice acceptor variant T/C snv 0.16 0.16
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs2273500
rs2273500 		0.882 0.080 20 63355597 splice acceptor variant T/C snv 0.16 0.16
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2015 2015
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: rs2273500
rs2273500 		0.882 0.080 20 63355597 splice acceptor variant T/C snv 0.16 0.16
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs2273504
rs2273504 		1.000 0.080 20 63356709 intron variant G/A;T snv
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs2273505
rs2273505 		1.000 0.080 20 63359526 non coding transcript exon variant C/T snv 4.0E-06; 9.2E-02 9.5E-02
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs3787137
rs3787137 		1.000 0.080 20 63347748 intron variant G/A snv 0.42
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs56175056
rs56175056 		1.000 0.080 20 63350405 missense variant G/A;T snv 3.3E-04; 4.0E-06
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs755203
rs755203 		1.000 0.080 20 63362912 intron variant G/A;C snv 0.42
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2013 2013
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