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: rs56113850
rs56113850
0.807 0.080 19 40847202 intron variant T/C snv 0.52
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.710 1.000 2 2016 2017
dbSNP: rs56113850
rs56113850
0.807 0.080 19 40847202 intron variant T/C snv 0.52
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors
Behavior and Behavior Mechanisms 0.700 1.000 1 2016 2016
dbSNP: rs56113850
rs56113850
0.807 0.080 19 40847202 intron variant T/C snv 0.52
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator
0.700 1.000 1 2015 2015
dbSNP: rs56113850
rs56113850
0.807 0.080 19 40847202 intron variant T/C snv 0.52
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2017 2017
dbSNP: rs56113850
rs56113850
0.807 0.080 19 40847202 intron variant T/C snv 0.52
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs56113850
rs56113850
0.807 0.080 19 40847202 intron variant T/C snv 0.52
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs56113850
rs56113850
0.807 0.080 19 40847202 intron variant T/C snv 0.52
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
0.700 1.000 1 2015 2015
dbSNP: rs56113850
rs56113850
0.807 0.080 19 40847202 intron variant T/C snv 0.52
CUI: C0037369
Disease: Smoking
Smoking
Behavior and Behavior Mechanisms 0.700 1.000 1 2016 2016
dbSNP: rs57837628
rs57837628
19 40852005 intron variant A/G snv 0.42
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
0.700 1.000 1 2015 2015
dbSNP: rs57837628
rs57837628
19 40852005 intron variant A/G snv 0.42
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator
0.700 1.000 1 2015 2015
dbSNP: rs8192733
rs8192733
19 40843645 3 prime UTR variant G/C snv 0.37
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
0.700 1.000 1 2015 2015
dbSNP: rs138978736
rs138978736
19 40846991 missense variant G/T snv 6.7E-04 1.2E-03
CUI: C1443924
Disease: Severe diarrhea
Severe diarrhea
Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017
dbSNP: rs1438233520
rs1438233520
1.000 0.080 19 40844742 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs1801272
rs1801272
0.807 0.240 19 40848628 missense variant A/T snv 2.0E-02 1.8E-02
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1801272
rs1801272
0.807 0.240 19 40848628 missense variant A/T snv 2.0E-02 1.8E-02
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs1801272
rs1801272
0.807 0.240 19 40848628 missense variant A/T snv 2.0E-02 1.8E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1801272
rs1801272
0.807 0.240 19 40848628 missense variant A/T snv 2.0E-02 1.8E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1801272
rs1801272
0.807 0.240 19 40848628 missense variant A/T snv 2.0E-02 1.8E-02
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1801272
rs1801272
0.807 0.240 19 40848628 missense variant A/T snv 2.0E-02 1.8E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs28399433
rs28399433
0.827 0.200 19 40850474 intron variant A/C;G;T snv 0.10; 4.4E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs28399433
rs28399433
0.827 0.200 19 40850474 intron variant A/C;G;T snv 0.10; 4.4E-06
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence
Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs28399433
rs28399433
0.827 0.200 19 40850474 intron variant A/C;G;T snv 0.10; 4.4E-06
CUI: C0278079
Disease: Psychological addiction
Psychological addiction
Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs28399433
rs28399433
0.827 0.200 19 40850474 intron variant A/C;G;T snv 0.10; 4.4E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs28399433
rs28399433
0.827 0.200 19 40850474 intron variant A/C;G;T snv 0.10; 4.4E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs28399433
rs28399433
0.827 0.200 19 40850474 intron variant A/C;G;T snv 0.10; 4.4E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018