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: 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: 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: 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: 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: 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: 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: rs2248374
rs2248374 		0.851 0.120 5 96900192 splice region variant A/G snv 0.55 0.54
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.030 1.000 3 2015 2019
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: 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: 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: 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: 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: 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: rs26653
rs26653 		0.882 0.080 5 96803547 missense variant C/A;G;T snv 0.64; 8.0E-06; 9.1E-04
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.020 0.500 2 2013 2018
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: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		Skin and Connective Tissue Diseases 0.020 1.000 2 2018 2018
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: 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: rs27524
rs27524 		0.851 0.160 5 96766240 intron variant A/G snv 0.61
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		Skin and Connective Tissue Diseases 0.020 1.000 2 2013 2018
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: 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: 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