IL23R, interleukin 23 receptor, 149233

N. diseases: 306; N. variants: 49
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: rs117633859
rs117633859 		1.000 0.120 1 67162145 intron variant A/G snv 2.6E-02
CUI: C0042170
Disease: Uveomeningoencephalitic Syndrome
Uveomeningoencephalitic Syndrome 		Eye Diseases; Immune System Diseases; Nervous System Diseases 0.710 1.000 1 2014 2014
dbSNP: rs76418789
rs76418789 		0.882 0.080 1 67182913 missense variant G/A snv 7.3E-03 4.5E-03
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.710 1.000 1 2016 2016
dbSNP: rs80174646
rs80174646 		0.827 0.120 1 67242472 intron variant G/T snv 5.8E-02
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 2 2015 2016
dbSNP: rs10489629
rs10489629 		0.827 0.240 1 67222666 intron variant T/C snv 0.48
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs10489629
rs10489629 		0.827 0.240 1 67222666 intron variant T/C snv 0.48
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs10489629
rs10489629 		0.827 0.240 1 67222666 intron variant T/C snv 0.48
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs10889676
rs10889676 		0.827 0.120 1 67256884 intron variant C/A;T snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs10889676
rs10889676 		0.827 0.120 1 67256884 intron variant C/A;T snv
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs10889676
rs10889676 		0.827 0.120 1 67256884 intron variant C/A;T snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs10889676
rs10889676 		0.827 0.120 1 67256884 intron variant C/A;T snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11209008
rs11209008 		0.882 0.080 1 67157615 intron variant G/A;T snv 5.7E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs11465759
rs11465759 		1 67166721 intron variant T/G snv 2.4E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11465759
rs11465759 		1 67166721 intron variant T/G snv 2.4E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11465759
rs11465759 		1 67166721 intron variant T/G snv 2.4E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11465759
rs11465759 		1 67166721 intron variant T/G snv 2.4E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11465804
rs11465804 		0.752 0.320 1 67236843 intron variant T/G snv 4.4E-02 5.4E-02
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs11465804
rs11465804 		0.752 0.320 1 67236843 intron variant T/G snv 4.4E-02 5.4E-02
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs11580078
rs11580078 		0.724 0.240 1 67203951 intron variant C/A;G snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs11580078
rs11580078 		0.724 0.240 1 67203951 intron variant C/A;G snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs11580078
rs11580078 		0.724 0.240 1 67203951 intron variant C/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: rs11580078
rs11580078 		0.724 0.240 1 67203951 intron variant C/A;G snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs11580078
rs11580078 		0.724 0.240 1 67203951 intron variant C/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: rs11580078
rs11580078 		0.724 0.240 1 67203951 intron variant C/A;G snv
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs11580078
rs11580078 		0.724 0.240 1 67203951 intron variant C/A;G snv
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs11580078
rs11580078 		0.724 0.240 1 67203951 intron variant C/A;G snv
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 1.000 1 2015 2015