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: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs7711564
rs7711564 		1.000 0.040 5 96760515 intron variant C/G snv 0.29
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2015 2015
dbSNP: rs786205141
rs786205141 		1.000 5 96762313 frameshift variant G/- del
CUI: C4225381
Disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 		0.710 1.000 1 2015 2015
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: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.030 1.000 3 2013 2016
dbSNP: rs27582
rs27582 		1.000 0.040 5 96762510 3 prime UTR variant G/A snv 0.36
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.020 1.000 2 2014 2016
dbSNP: rs2910686
rs2910686 		0.827 0.120 5 96916885 intron variant T/C snv 0.42
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 2 2012 2016
dbSNP: rs2910686
rs2910686 		0.827 0.120 5 96916885 intron variant T/C snv 0.42
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 2 2013 2016
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: 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: rs2549803
rs2549803 		0.827 0.120 5 96839226 intron variant C/T snv 0.27
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2549803
rs2549803 		0.827 0.120 5 96839226 intron variant C/T snv 0.27
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2549803
rs2549803 		0.827 0.120 5 96839226 intron variant C/T snv 0.27
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2549803
rs2549803 		0.827 0.120 5 96839226 intron variant C/T snv 0.27
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2549803
rs2549803 		0.827 0.120 5 96839226 intron variant C/T snv 0.27
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 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: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
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: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2910686
rs2910686 		0.827 0.120 5 96916885 intron variant T/C snv 0.42
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2910686
rs2910686 		0.827 0.120 5 96916885 intron variant T/C snv 0.42
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2910686
rs2910686 		0.827 0.120 5 96916885 intron variant T/C snv 0.42
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs30187
rs30187 		0.732 0.360 5 96788627 missense variant T/A;C snv 0.62
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs30187
rs30187 		0.732 0.360 5 96788627 missense variant T/A;C snv 0.62
CUI: C0701807
Disease: Acute anterior uveitis
Acute anterior uveitis 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs469758
rs469758 		0.827 0.120 5 96786011 intron variant C/T snv 0.62 0.63
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016