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: C3887938
Disease: Deuteranomaly
Deuteranomaly 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1042151
rs1042151 		0.925 0.240 6 33080884 missense variant A/G snv 0.18 0.25
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 2013 2013
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: rs2856830
rs2856830 		0.925 0.080 6 33073957 intron variant T/C snv 0.12
CUI: C1701938
Disease: Associated Pulmonary Arterial Hypertension
Associated Pulmonary Arterial Hypertension 		Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3077
rs3077 		0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29
CUI: C0262988
Disease: Vasculitis of the skin
Vasculitis of the skin 		Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3077
rs3077 		0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis 		Infections; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3077
rs3077 		0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2013 2013
dbSNP: rs3077
rs3077 		0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2013 2013
dbSNP: rs3077
rs3077 		0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2013 2013
dbSNP: rs3077
rs3077 		0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2014 2014
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: rs3077
rs3077 		0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3077
rs3077 		0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29
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: rs3077
rs3077 		0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.010 1.000 1 2018 2018
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: rs386699871
rs386699871 		1.000 0.240 6 33080884 missense variant ATG/GTA mnv
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 2013 2013
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: 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: rs9277355
rs9277355 		1.000 0.080 6 33080914 missense variant C/G snv 0.31 0.38
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2019 2019
dbSNP: rs9277356
rs9277356 		1.000 0.080 6 33080917 missense variant A/G snv 0.30 0.38
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2019 2019
dbSNP: rs9277378
rs9277378 		0.827 0.320 6 33082502 intron variant A/G snv 0.40
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs9277378
rs9277378 		0.827 0.320 6 33082502 intron variant A/G snv 0.40
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs9277378
rs9277378 		0.827 0.320 6 33082502 intron variant A/G snv 0.40
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease 		Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs9500928
rs9500928 		0.925 0.120 6 33081917 intron variant C/T snv 4.0E-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