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: 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: rs3829109
rs3829109 		9 136362314 intron variant G/A snv 0.25
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3829109
rs3829109 		9 136362314 intron variant G/A snv 0.25
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		0.700 1.000 1 2012 2012
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
dbSNP: rs11145763
rs11145763 		0.724 0.240 9 136369144 intron variant A/C;G;T snv
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 1.000 1 2015 2015
dbSNP: rs11145763
rs11145763 		0.724 0.240 9 136369144 intron variant A/C;G;T snv
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 1.000 1 2015 2015
dbSNP: rs11145763
rs11145763 		0.724 0.240 9 136369144 intron variant A/C;G;T snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		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: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal 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: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2015 2015
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: rs4077515
rs4077515 		0.763 0.360 9 136372044 missense variant C/A;T snv 4.0E-06; 0.41
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.020 1.000 2 2010 2016
dbSNP: rs4077515
rs4077515 		0.763 0.360 9 136372044 missense variant C/A;T snv 4.0E-06; 0.41
CUI: C0272286
Disease: Thrombocytopenia due to platelet alloimmunization
Thrombocytopenia due to platelet alloimmunization 		Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4077515
rs4077515 		0.763 0.360 9 136372044 missense variant C/A;T snv 4.0E-06; 0.41
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4077515
rs4077515 		0.763 0.360 9 136372044 missense variant C/A;T snv 4.0E-06; 0.41
CUI: C0242584
Disease: Autoimmune thrombocytopenia
Autoimmune thrombocytopenia 		Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
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: C0877445
Disease: Candidemia
Candidemia 		Pathological Conditions, Signs and Symptoms; Infections 0.010 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: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2018 2018