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: 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: rs1044397
rs1044397 		0.851 0.160 20 63349752 synonymous variant C/T snv 0.48 0.41
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: rs1044397
rs1044397 		0.851 0.160 20 63349752 synonymous variant C/T snv 0.48 0.41
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2015 2015
dbSNP: rs1044397
rs1044397 		0.851 0.160 20 63349752 synonymous variant C/T snv 0.48 0.41
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs1044397
rs1044397 		0.851 0.160 20 63349752 synonymous variant C/T snv 0.48 0.41
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1044397
rs1044397 		0.851 0.160 20 63349752 synonymous variant C/T snv 0.48 0.41
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2015 2015
dbSNP: rs1044397
rs1044397 		0.851 0.160 20 63349752 synonymous variant C/T snv 0.48 0.41
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 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
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: 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: 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: 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: 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