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: 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: 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: 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
dbSNP: rs3869068
rs3869068 		0.925 6 30036275 intron variant C/T snv 0.17
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2009 2009
dbSNP: rs3869068
rs3869068 		0.925 6 30036275 intron variant C/T snv 0.17
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.010 1.000 1 2017 2017
dbSNP: rs4713281
rs4713281 		1.000 0.080 6 30010575 intron variant G/A snv 0.23
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 1 2015 2015
dbSNP: rs62388754
rs62388754 		0.925 6 30033926 intron variant C/T snv 4.9E-02
CUI: C1274700
Disease: Postmenopausal frontal fibrosing alopecia
Postmenopausal frontal fibrosing alopecia 		0.700 1.000 1 2019 2019
dbSNP: rs62388754
rs62388754 		0.925 6 30033926 intron variant C/T snv 4.9E-02
CUI: C4255374
Disease: Frontal fibrosing alopecia
Frontal fibrosing alopecia 		0.700 1.000 1 2019 2019
dbSNP: rs6917603
rs6917603 		6 30049294 intron variant T/C snv 0.15
CUI: C3815172
Disease: Interleukin 1 Beta Measurement
Interleukin 1 Beta Measurement 		0.700 1.000 1 2019 2019
dbSNP: rs6917603
rs6917603 		6 30049294 intron variant T/C snv 0.15
CUI: C0523744
Disease: Lipids measurement
Lipids measurement 		0.800 1.000 1 2012 2012
dbSNP: rs6940552
rs6940552 		1.000 0.080 6 30044563 intron variant G/A snv 0.12
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs6940552
rs6940552 		1.000 0.080 6 30044563 intron variant G/A snv 0.12
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs7758512
rs7758512 		1.000 6 30002812 intron variant T/G snv 0.17
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.800 1.000 1 2009 2009