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: rs30187
rs30187 		0.732 0.360 5 96788627 missense variant T/A;C snv 0.62
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.020 1.000 2 2002 2006
dbSNP: rs30187
rs30187 		0.732 0.360 5 96788627 missense variant T/A;C snv 0.62
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 1.000 2 2006 2019
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: rs30187
rs30187 		0.732 0.360 5 96788627 missense variant T/A;C snv 0.62
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.900 0.957 23 2009 2020
dbSNP: rs27044
rs27044 		0.827 0.240 5 96783148 missense variant G/C snv 0.69 0.71
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.100 1.000 16 2009 2019
dbSNP: rs27434
rs27434 		1.000 0.040 5 96793809 synonymous variant A/G;T snv 0.72; 1.2E-05
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.890 1.000 10 2009 2018
dbSNP: rs10050860
rs10050860 		0.882 0.240 5 96786506 missense variant C/T snv 0.15 0.16
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.790 0.900 10 2010 2019
dbSNP: rs2287987
rs2287987 		0.882 0.120 5 96793832 missense variant T/C snv 0.15 0.16
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.070 1.000 7 2010 2020
dbSNP: rs27524
rs27524 		0.851 0.160 5 96766240 intron variant A/G snv 0.61
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.800 1.000 2 2010 2015
dbSNP: rs151823
rs151823 		1.000 0.040 5 96824289 intron variant A/C snv 0.90
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
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: rs17482078
rs17482078 		0.882 0.240 5 96783162 missense variant C/G;T snv 2.8E-05; 0.15
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.040 1.000 4 2011 2015
dbSNP: rs27038
rs27038 		1.000 0.040 5 96777250 intron variant A/G snv 0.82
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.020 1.000 2 2011 2019
dbSNP: rs27529
rs27529 		1.000 0.040 5 96790605 missense variant A/G;T snv 0.62
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.710 1.000 2 2011 2019
dbSNP: rs30187
rs30187 		0.732 0.360 5 96788627 missense variant T/A;C snv 0.62
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 1.000 2 2011 2017
dbSNP: rs13170045
rs13170045 		1.000 0.040 5 96790082 intron variant G/T snv 0.16
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2011 2011
dbSNP: rs27710
rs27710 		1.000 0.040 5 96790494 intron variant A/G snv 0.62 0.63
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2011 2011
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: 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: rs469876
rs469876 		1.000 0.040 5 96785702 non coding transcript exon variant A/G snv 0.22
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.020 0.500 2 2012 2018
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: rs27432
rs27432 		0.925 0.040 5 96783569 intron variant A/C;G snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.800 1.000 1 2012 2012
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: 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