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: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1600249
rs1600249 		0.827 0.280 8 11502129 intron variant G/T snv 0.23
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0003864
Disease: Arthritis
Arthritis 		Musculoskeletal Diseases 0.010 1.000 1 2011 2011
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4840568
rs4840568 		0.882 0.160 8 11493510 intron variant G/A snv 0.32
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		0.010 1.000 1 2019 2019
dbSNP: rs4840568
rs4840568 		0.882 0.160 8 11493510 intron variant G/A snv 0.32
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		0.010 1.000 1 2018 2018
dbSNP: rs1600249
rs1600249 		0.827 0.280 8 11502129 intron variant G/T snv 0.23
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1478898
rs1478898 		8 11537570 intron variant G/A snv 0.41
CUI: C0008810
Disease: Circadian Rhythms
Circadian Rhythms 		0.700 1.000 1 2016 2016
dbSNP: rs2255327
rs2255327 		8 11552483 intron variant C/T snv 1.2E-02
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		0.800 1.000 1 2012 2012
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.020 1.000 2 2014 2015
dbSNP: rs55758736
rs55758736 		0.851 0.120 8 11548067 missense variant G/A snv 1.2E-02 1.5E-02
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs55758736
rs55758736 		0.851 0.120 8 11548067 missense variant G/A snv 1.2E-02 1.5E-02
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs55758736
rs55758736 		0.851 0.120 8 11548067 missense variant G/A snv 1.2E-02 1.5E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis 		Infections; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs10098664
rs10098664 		8 11559984 non coding transcript exon variant T/A;C snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs13277113
rs13277113 		0.695 0.520 8 11491677 intron variant G/A snv 0.25
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.890 1.000 13 2008 2019
dbSNP: rs2248932
rs2248932 		0.882 0.160 8 11534141 intron variant A/G snv 0.60
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.720 1.000 4 2008 2011
dbSNP: rs4840568
rs4840568 		0.882 0.160 8 11493510 intron variant G/A snv 0.32
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.020 1.000 2 2012 2017
dbSNP: rs1382568
rs1382568 		0.925 0.160 8 11493711 intron variant A/C;G snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2014 2014