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: rs16896923
rs16896923 		1.000 0.120 6 30032910 non coding transcript exon variant T/C snv 5.0E-02
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.710 1.000 2 2010 2017
dbSNP: rs3757328
rs3757328 		0.851 0.120 6 30060575 non coding transcript exon variant G/A snv 9.8E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2015 2016
dbSNP: rs4711207
rs4711207 		1.000 0.120 6 30037977 intron variant C/A snv 0.23
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs6940552
rs6940552 		1.000 0.080 6 30044563 intron variant G/A snv 0.12
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2015 2016
dbSNP: rs9261204
rs9261204 		0.790 0.200 6 30037466 intron variant A/G snv 0.17
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2015 2016
dbSNP: rs1150740
rs1150740 		1.000 0.240 6 30062912 intron variant C/A snv 8.3E-02
CUI: C3853540
Disease: Aspirin exacerbated respiratory disease
Aspirin exacerbated respiratory disease 		Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Immune System Diseases; Chemically-Induced Disorders; Otorhinolaryngologic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs166327
rs166327 		1.000 0.120 6 30035104 non coding transcript exon variant T/C snv 0.44
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs259919
rs259919 		0.882 0.080 6 30057726 intron variant G/A snv 0.25
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs259919
rs259919 		0.882 0.080 6 30057726 intron variant G/A snv 0.25
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2012 2012
dbSNP: rs259919
rs259919 		0.882 0.080 6 30057726 intron variant G/A snv 0.25
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.800 1.000 1 2009 2009
dbSNP: rs259919
rs259919 		0.882 0.080 6 30057726 intron variant G/A snv 0.25
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.800 1.000 1 2009 2009
dbSNP: rs259919
rs259919 		0.882 0.080 6 30057726 intron variant G/A snv 0.25
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.800 1.000 1 2009 2009
dbSNP: rs259919
rs259919 		0.882 0.080 6 30057726 intron variant G/A snv 0.25
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.800 1.000 1 2009 2009
dbSNP: rs259940
rs259940 		0.925 0.080 6 30044157 intron variant A/G snv 0.23
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs259940
rs259940 		0.925 0.080 6 30044157 intron variant A/G snv 0.23
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2012 2012
dbSNP: rs3094146
rs3094146 		1.000 0.080 6 30003183 non coding transcript exon variant G/C snv 6.1E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs3757328
rs3757328 		0.851 0.120 6 30060575 non coding transcript exon variant G/A snv 9.8E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs3757328
rs3757328 		0.851 0.120 6 30060575 non coding transcript exon variant G/A snv 9.8E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3757328
rs3757328 		0.851 0.120 6 30060575 non coding transcript exon variant G/A snv 9.8E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3757328
rs3757328 		0.851 0.120 6 30060575 non coding transcript exon variant G/A snv 9.8E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3757328
rs3757328 		0.851 0.120 6 30060575 non coding transcript exon variant G/A snv 9.8E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs3757333
rs3757333 		1.000 0.040 6 30060829 non coding transcript exon variant C/A snv 9.8E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs3869068
rs3869068 		0.925 6 30036275 intron variant C/T snv 0.17
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2009 2009
dbSNP: rs3869068
rs3869068 		0.925 6 30036275 intron variant C/T snv 0.17
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 1 2009 2009
dbSNP: rs3869068
rs3869068 		0.925 6 30036275 intron variant C/T snv 0.17
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2009 2009