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: 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: rs9261129
rs9261129 		1.000 6 30011802 intron variant T/C 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: rs9261129
rs9261129 		1.000 6 30011802 intron variant T/C snv 0.17
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2009 2009
dbSNP: rs9261129
rs9261129 		1.000 6 30011802 intron variant T/C snv 0.17
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2009 2009
dbSNP: rs9261129
rs9261129 		1.000 6 30011802 intron variant T/C snv 0.17
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2009 2009
dbSNP: rs9261174
rs9261174 		1.000 6 30029078 intron variant T/C snv 0.17
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2009 2009
dbSNP: rs9261174
rs9261174 		1.000 6 30029078 intron variant T/C snv 0.17
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2009 2009
dbSNP: rs9261174
rs9261174 		1.000 6 30029078 intron variant T/C 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: rs9261174
rs9261174 		1.000 6 30029078 intron variant T/C snv 0.17
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2009 2009
dbSNP: rs9261224
rs9261224 		6 30046110 intron variant C/T snv 0.15
CUI: C3815172
Disease: Interleukin 1 Beta Measurement
Interleukin 1 Beta Measurement 		0.700 1.000 1 2019 2019
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: 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: 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: 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: 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