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: rs2359952
rs2359952 		1.000 0.040 1 198687278 intron variant A/G snv 0.37
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.800 1.000 1 2015 2015
dbSNP: rs10919563
rs10919563 		0.925 0.120 1 198731313 intron variant G/A snv 0.21
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.740 1.000 5 2010 2016
dbSNP: rs2296618
rs2296618 		1 198697103 intron variant A/G snv 0.21
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 2 2016 2019
dbSNP: rs10494783
rs10494783 		1 198694532 3 prime UTR variant G/A snv 9.4E-02
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs12733073
rs12733073 		1 198710886 intron variant G/A;C snv
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1553243550
rs1553243550 		1.000 0.120 1 198735253 splice donor variant G/A snv
CUI: C1837028
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 1 2000 2000
dbSNP: rs16843742
rs16843742 		1.000 0.040 1 198703170 intron variant T/C;G snv
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs17668708
rs17668708 		0.925 0.080 1 198671359 intron variant C/T snv 8.0E-02
CUI: C0741260
Disease: Adult onset asthma
Adult onset asthma 		0.700 1.000 1 2019 2019
dbSNP: rs17668708
rs17668708 		0.925 0.080 1 198671359 intron variant C/T snv 8.0E-02
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs17669032
rs17669032 		1.000 0.040 1 198684045 intron variant A/G snv 7.0E-02
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2296618
rs2296618 		1 198697103 intron variant A/G snv 0.21
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs3767747
rs3767747 		1 198694973 3 prime UTR variant G/A;C snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs59271985
rs59271985 		1 198749821 intron variant A/G snv 0.19
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs75567729
rs75567729 		1 198641406 intron variant A/G snv 8.4E-02
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs398122383
rs398122383 		1.000 0.120 1 198718267 stop gained A/G;T snv 4.0E-06
CUI: C1837028
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs10919563
rs10919563 		0.925 0.120 1 198731313 intron variant G/A snv 0.21
CUI: C0333516
Disease: Tumor necrosis
Tumor necrosis 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2015 2015
dbSNP: rs10919563
rs10919563 		0.925 0.120 1 198731313 intron variant G/A snv 0.21
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1189209220
rs1189209220 		1 198706883 missense variant G/A snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1189209220
rs1189209220 		1 198706883 missense variant G/A snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1406268326
rs1406268326 		1 198750519 missense variant G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs148561683
rs148561683 		1.000 0.080 1 198703360 missense variant A/C;G snv 5.3E-04; 1.2E-05
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs17612648
rs17612648 		1.000 0.040 1 198696788 synonymous variant C/G;T snv 8.8E-03; 8.0E-05
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs17612648
rs17612648 		1.000 0.040 1 198696788 synonymous variant C/G;T snv 8.8E-03; 8.0E-05
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs4915154
rs4915154 		1.000 0.080 1 198702524 missense variant A/G snv 4.3E-02 1.8E-02
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2003 2003