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: rs10050860
rs10050860 		0.882 0.240 5 96786506 missense variant C/T snv 0.15 0.16
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1065407
rs1065407 		1.000 0.200 5 96776379 3 prime UTR variant T/A;G snv 3.3E-05; 0.26
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs11135484
rs11135484 		1.000 0.040 5 96886185 intron variant A/G snv 0.55
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs13154629
rs13154629 		1.000 0.200 5 96786754 non coding transcript exon variant C/T snv 0.16
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs13167972
rs13167972 		1.000 0.040 5 96761124 3 prime UTR variant A/G snv 0.35
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1437138510
rs1437138510 		1.000 0.040 5 96909646 missense variant T/C snv 4.0E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2248374
rs2248374 		0.851 0.120 5 96900192 splice region variant A/G snv 0.55 0.54
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2248374
rs2248374 		0.851 0.120 5 96900192 splice region variant A/G snv 0.55 0.54
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2248374
rs2248374 		0.851 0.120 5 96900192 splice region variant A/G snv 0.55 0.54
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2287987
rs2287987 		0.882 0.120 5 96793832 missense variant T/C snv 0.15 0.16
CUI: C0042164
Disease: Uveitis
Uveitis 		Eye Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2287987
rs2287987 		0.882 0.120 5 96793832 missense variant T/C snv 0.15 0.16
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2549782
rs2549782 		1.000 0.040 5 96895296 missense variant G/T snv 0.55 0.54
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs26618
rs26618 		0.882 0.200 5 96795133 missense variant T/A;C;G snv 0.22 0.22
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs26618
rs26618 		0.882 0.200 5 96795133 missense variant T/A;C;G snv 0.22 0.22
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs26618
rs26618 		0.882 0.200 5 96795133 missense variant T/A;C;G snv 0.22 0.22
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs26653
rs26653 		0.882 0.080 5 96803547 missense variant C/A;G;T snv 0.64; 8.0E-06; 9.1E-04
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs27044
rs27044 		0.827 0.240 5 96783148 missense variant G/C snv 0.69 0.71
CUI: C0949690
Disease: Spondylarthritis
Spondylarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2013 2013
dbSNP: rs27044
rs27044 		0.827 0.240 5 96783148 missense variant G/C snv 0.69 0.71
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs27524
rs27524 		0.851 0.160 5 96766240 intron variant A/G snv 0.61
CUI: C1333064
Disease: Classical Hodgkin's Lymphoma
Classical Hodgkin's Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs27524
rs27524 		0.851 0.160 5 96766240 intron variant A/G snv 0.61
CUI: C2347747
Disease: Adult Classical Hodgkin Lymphoma
Adult Classical Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2762
rs2762 		1.000 0.120 5 96937594 non coding transcript exon variant C/T snv 0.41
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs2927615
rs2927615 		5 96862499 intron variant G/A snv 0.18
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs30187
rs30187 		0.732 0.360 5 96788627 missense variant T/A;C snv 0.62
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs30187
rs30187 		0.732 0.360 5 96788627 missense variant T/A;C snv 0.62
CUI: C3495919
Disease: Enthesitis-Related Arthritis
Enthesitis-Related Arthritis 		Musculoskeletal Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs30187
rs30187 		0.732 0.360 5 96788627 missense variant T/A;C snv 0.62
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2012 2012