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: rs397964890
rs397964890 		5 96787817 intron variant -/AT;ATAT delins 0.63
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs469735
rs469735 		5 96794311 intron variant T/A;C snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs469783
rs469783 		5 96785820 synonymous variant C/T snv 0.55 0.56
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs73774722
rs73774722 		5 96820969 intron variant G/A snv 2.2E-04
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
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: 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: 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: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs27980
rs27980 		1.000 0.040 5 96762191 3 prime UTR variant T/G snv 0.36
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.030 0.667 3 2016 2018
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