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: 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
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: rs3077
rs3077 		0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29
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: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs1367728
rs1367728 		1.000 0.120 6 33067038 non coding transcript exon variant G/A snv 0.10
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs3077
rs3077 		0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.900 0.913 23 2009 2019
dbSNP: rs2301220
rs2301220 		1.000 0.080 6 33070989 intron variant C/A;T snv
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.700 1.000 3 2009 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: rs9277341
rs9277341 		0.882 0.280 6 33071848 intron variant T/A;C snv
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: rs9277341
rs9277341 		0.882 0.280 6 33071848 intron variant T/A;C snv
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.700 1.000 1 2009 2009
dbSNP: rs3077
rs3077 		0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29
CUI: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic 		Digestive System Diseases; Infections 0.760 1.000 8 2011 2017
dbSNP: rs3077
rs3077 		0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.740 0.600 5 2011 2015
dbSNP: rs3077
rs3077 		0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.050 0.600 5 2011 2014
dbSNP: rs1431399
rs1431399 		1.000 0.080 6 33073257 intron variant A/G;T snv
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.700 1.000 2 2011 2013
dbSNP: rs9469341
rs9469341 		1.000 0.080 6 33068100 3 prime UTR variant A/C;G snv
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.700 1.000 2 2011 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: 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: rs2301226
rs2301226 		1.000 0.080 6 33066819 non coding transcript exon variant G/A snv 0.16
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.700 1.000 1 2011 2011
dbSNP: rs3077
rs3077 		0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.010 < 0.001 1 2011 2011
dbSNP: rs3077
rs3077 		0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs9277359
rs9277359 		0.925 0.200 6 33082247 intron variant C/A;T snv
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: rs9277377
rs9277377 		1.000 0.120 6 33082426 intron variant C/A;G snv
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: rs9277378
rs9277378 		0.827 0.320 6 33082502 intron variant A/G snv 0.40
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: rs928976
rs928976 		0.925 0.200 6 33081434 intron variant C/T snv 0.41
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: 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