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: rs10045403
rs10045403 		0.882 0.040 5 96812030 upstream gene variant A/G snv 0.23
CUI: C1274700
Disease: Postmenopausal frontal fibrosing alopecia
Postmenopausal frontal fibrosing alopecia 		0.700 1.000 1 2019 2019
dbSNP: rs10045403
rs10045403 		0.882 0.040 5 96812030 upstream gene variant A/G snv 0.23
CUI: C4255374
Disease: Frontal fibrosing alopecia
Frontal fibrosing alopecia 		0.700 1.000 1 2019 2019
dbSNP: rs10045403
rs10045403 		0.882 0.040 5 96812030 upstream gene variant A/G snv 0.23
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2013 2013
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: 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: 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: rs1065407
rs1065407 		1.000 0.200 5 96776379 3 prime UTR variant T/A;G snv 3.3E-05; 0.26
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 2015 2015
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: 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: rs13154629
rs13154629 		1.000 0.200 5 96786754 non coding transcript exon variant C/T snv 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 0.010 1.000 1 2015 2015
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: 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: 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: 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: rs1437138510
rs1437138510 		1.000 0.040 5 96909646 missense variant T/C snv 4.0E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2013 2013
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: 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: 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: 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: 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
dbSNP: rs2013717
rs2013717 		5 96798472 intron variant T/G snv 0.16
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs202110856
rs202110856 		0.790 0.080 5 96794169 intron variant -/C delins 2.1E-05
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2015 2015
dbSNP: rs202110856
rs202110856 		0.790 0.080 5 96794169 intron variant -/C delins 2.1E-05
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2015 2015