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: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.900 0.957 23 2009 2020
dbSNP: rs30187
rs30187 		0.732 0.360 5 96788627 missense variant T/A;C snv 0.62
CUI: C0949690
Disease: Spondylarthritis
Spondylarthritis 		Musculoskeletal Diseases 0.030 1.000 3 2013 2015
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: 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: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 1.000 2 2011 2017
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
dbSNP: rs30187
rs30187 		0.732 0.360 5 96788627 missense variant T/A;C snv 0.62
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 2018 2018
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: 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: rs30187
rs30187 		0.732 0.360 5 96788627 missense variant T/A;C snv 0.62
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous 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: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
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: 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: 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: rs17482078
rs17482078 		0.882 0.240 5 96783162 missense variant C/G;T snv 2.8E-05; 0.15
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 0.820 1.000 3 2013 2019
dbSNP: rs10050860
rs10050860 		0.882 0.240 5 96786506 missense variant C/T snv 0.15 0.16
CUI: C0949690
Disease: Spondylarthritis
Spondylarthritis 		Musculoskeletal Diseases 0.020 1.000 2 2013 2015
dbSNP: rs10050860
rs10050860 		0.882 0.240 5 96786506 missense variant C/T snv 0.15 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 0.020 1.000 2 2015 2015
dbSNP: rs17482078
rs17482078 		0.882 0.240 5 96783162 missense variant C/G;T snv 2.8E-05; 0.15
CUI: C0949690
Disease: Spondylarthritis
Spondylarthritis 		Musculoskeletal Diseases 0.020 1.000 2 2013 2015
dbSNP: rs27044
rs27044 		0.827 0.240 5 96783148 missense variant G/C snv 0.69 0.71
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 0.020 1.000 2 2019 2020
dbSNP: rs27044
rs27044 		0.827 0.240 5 96783148 missense variant G/C snv 0.69 0.71
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.710 1.000 2 2015 2017
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: rs17482078
rs17482078 		0.882 0.240 5 96783162 missense variant C/G;T snv 2.8E-05; 0.15
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018