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: rs10781499
rs10781499 		0.925 0.040 9 136371953 synonymous variant G/A snv 0.41 0.38
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.800 1.000 3 2011 2017
dbSNP: rs149712114
rs149712114 		1.000 0.080 9 136367788 missense variant C/G;T snv 2.1E-05; 6.4E-05
CUI: C1859353
Disease: Candidiasis, Familial, 2
Candidiasis, Familial, 2 		Infections; Skin and Connective Tissue Diseases 0.800 1.000 3 2009 2013
dbSNP: rs398122362
rs398122362 		1.000 0.080 9 136371432 missense variant C/A;T snv 7.0E-06
CUI: C1859353
Disease: Candidiasis, Familial, 2
Candidiasis, Familial, 2 		Infections; Skin and Connective Tissue Diseases 0.800 1.000 3 2009 2013
dbSNP: rs398122364
rs398122364 		1.000 0.080 9 136371345 missense variant G/A snv
CUI: C1859353
Disease: Candidiasis, Familial, 2
Candidiasis, Familial, 2 		Infections; Skin and Connective Tissue Diseases 0.800 1.000 3 2009 2013
dbSNP: rs10781499
rs10781499 		0.925 0.040 9 136371953 synonymous variant G/A snv 0.41 0.38
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.800 1.000 2 2012 2017
dbSNP: rs10781500
rs10781500 		1.000 0.040 9 136374886 upstream gene variant C/G;T snv
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.800 1.000 1 2011 2011
dbSNP: rs4077515
rs4077515 		0.763 0.360 9 136372044 missense variant C/A;T snv 4.0E-06; 0.41
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.800 1.000 1 2010 2010
dbSNP: rs4077515
rs4077515 		0.763 0.360 9 136372044 missense variant C/A;T snv 4.0E-06; 0.41
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.800 1.000 1 2010 2010
dbSNP: rs10870077
rs10870077 		0.827 0.120 9 136369439 intron variant C/G snv 0.38
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.710 1.000 2 2008 2016
dbSNP: rs10870077
rs10870077 		0.827 0.120 9 136369439 intron variant C/G snv 0.38
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.710 1.000 2 2008 2016
dbSNP: rs4077515
rs4077515 		0.763 0.360 9 136372044 missense variant C/A;T snv 4.0E-06; 0.41
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.710 1.000 2 2014 2017
dbSNP: rs10781499
rs10781499 		0.925 0.040 9 136371953 synonymous variant G/A snv 0.41 0.38
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 2 2015 2017
dbSNP: rs10870077
rs10870077 		0.827 0.120 9 136369439 intron variant C/G snv 0.38
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs10870077
rs10870077 		0.827 0.120 9 136369439 intron variant C/G snv 0.38
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs10870077
rs10870077 		0.827 0.120 9 136369439 intron variant C/G snv 0.38
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs10870202
rs10870202 		9 136362959 intron variant T/C snv 0.48 0.48
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2017 2017
dbSNP: rs11145763
rs11145763 		0.724 0.240 9 136369144 intron variant A/C;G;T snv
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs11145763
rs11145763 		0.724 0.240 9 136369144 intron variant A/C;G;T snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs11145763
rs11145763 		0.724 0.240 9 136369144 intron variant A/C;G;T snv
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs11145763
rs11145763 		0.724 0.240 9 136369144 intron variant A/C;G;T snv
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs11145763
rs11145763 		0.724 0.240 9 136369144 intron variant A/C;G;T snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs11145763
rs11145763 		0.724 0.240 9 136369144 intron variant A/C;G;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs11145763
rs11145763 		0.724 0.240 9 136369144 intron variant A/C;G;T snv
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs11145763
rs11145763 		0.724 0.240 9 136369144 intron variant A/C;G;T 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: rs11145763
rs11145763 		0.724 0.240 9 136369144 intron variant A/C;G;T snv
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 2015 2015