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: rs1363907
rs1363907 		1.000 0.040 5 96917099 intron variant G/A snv 0.38
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.800 1.000 3 2012 2017
dbSNP: rs2549794
rs2549794 		1.000 0.040 5 96908845 intron variant C/T snv 0.62
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.800 1.000 1 2010 2010
dbSNP: rs1363907
rs1363907 		1.000 0.040 5 96917099 intron variant G/A snv 0.38
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 2 2015 2017
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: rs11455840
rs11455840 		5 96910265 non coding transcript exon variant AA/-;A;AAA;AAAA;AAAAA;AAAAAAAAAAA delins
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs17408150
rs17408150 		5 96903554 missense variant T/A snv 4.0E-02 3.8E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
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: rs2927608
rs2927608 		5 96916728 intron variant G/A snv 0.42
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs34261036
rs34261036 		5 96895352 missense variant T/C;G snv 4.0E-06; 4.1E-03
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		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: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive 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: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive 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: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal 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: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		Immune System Diseases; Endocrine 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: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune 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: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine 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: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
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