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: rs987870
rs987870 		0.851 0.160 6 33075103 intron variant A/G snv 0.19
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: rs987870
rs987870 		0.851 0.160 6 33075103 intron variant A/G snv 0.19
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.810 1.000 1 2011 2011
dbSNP: rs987870
rs987870 		0.851 0.160 6 33075103 intron variant A/G snv 0.19
CUI: C0018133
Disease: Graft-vs-Host Disease
Graft-vs-Host Disease 		Immune System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs987870
rs987870 		0.851 0.160 6 33075103 intron variant A/G snv 0.19
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.800 1.000 1 2011 2011
dbSNP: rs2071349
rs2071349 		1.000 0.080 6 33075743 intron variant C/G snv 0.14
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2071351
rs2071351 		1.000 0.080 6 33076153 intron variant A/G snv 0.24 0.29
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.700 1.000 1 2013 2013
dbSNP: rs2071353
rs2071353 		1.000 0.080 6 33076480 intron variant T/C;G snv
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.700 1.000 1 2013 2013
dbSNP: rs3135021
rs3135021 		0.925 0.080 6 33077781 intron variant G/A snv 0.32
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.710 0.667 3 2009 2016
dbSNP: rs3135021
rs3135021 		0.925 0.080 6 33077781 intron variant G/A snv 0.32
CUI: C4075603
Disease: Occult chronic type B viral hepatitis
Occult chronic type B viral hepatitis 		Digestive System Diseases; Infections 0.010 1.000 1 2017 2017
dbSNP: rs7750458
rs7750458 		0.925 0.120 6 33077921 intron variant G/A snv 9.5E-02
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 1 2016 2016
dbSNP: rs7750458
rs7750458 		0.925 0.120 6 33077921 intron variant G/A snv 9.5E-02
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2567279
rs2567279 		1.000 0.080 6 33078885 intron variant T/C snv 0.27
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.700 1.000 1 2013 2013
dbSNP: rs2021408
rs2021408 		1.000 0.040 6 33078949 intron variant T/C snv 0.15
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		Stomatognathic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2856821
rs2856821 		1.000 0.040 6 33078965 intron variant T/C snv 0.21
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.700 1.000 1 2019 2019
dbSNP: rs3097670
rs3097670 		6 33078975 intron variant G/A;C snv
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1431403
rs1431403 		0.925 0.200 6 33079254 intron variant T/C snv 0.37
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.700 1.000 2 2012 2013
dbSNP: rs1431403
rs1431403 		0.925 0.200 6 33079254 intron variant T/C snv 0.37
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2856822
rs2856822 		1.000 0.080 6 33079655 non coding transcript exon variant A/C snv 0.41
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.700 1.000 1 2013 2013
dbSNP: rs12722013
rs12722013 		6 33080683 missense variant T/C;G snv 6.2E-02; 4.1E-06
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs9277346
rs9277346 		1.000 0.080 6 33080689 stop gained G/T snv
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2016 2016
dbSNP: rs116722486
rs116722486 		6 33080823 synonymous variant T/C;G snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2018 2018
dbSNP: rs1042133
rs1042133 		6 33080829 missense variant G/C snv 0.14 0.15
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs1042133
rs1042133 		6 33080829 missense variant G/C snv 0.14 0.15
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs1042140
rs1042140 		1.000 0.120 6 33080863 stop gained A/C;G;T snv 2.4E-05; 0.25
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1042140
rs1042140 		1.000 0.120 6 33080863 stop gained A/C;G;T snv 2.4E-05; 0.25
CUI: C4016208
Disease: BERYLLIUM DISEASE, CHRONIC, SUSCEPTIBILITY TO
BERYLLIUM DISEASE, CHRONIC, SUSCEPTIBILITY TO 		0.700 0