ICOS, inducible T cell costimulator, 29851

N. diseases: 193; N. variants: 9
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: rs4675374
rs4675374 		0.882 0.200 2 203937855 intron variant T/C snv 0.65
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 1 2010 2010
dbSNP: rs1559035937
rs1559035937 		1.000 2 203955973 splice donor variant T/C snv
CUI: C3149378
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1
IMMUNODEFICIENCY, COMMON VARIABLE, 1 		0.700 1.000 3 2001 2009
dbSNP: rs4675374
rs4675374 		0.882 0.200 2 203937855 intron variant T/C snv 0.65
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4675374
rs4675374 		0.882 0.200 2 203937855 intron variant T/C snv 0.65
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4675374
rs4675374 		0.882 0.200 2 203937855 intron variant T/C snv 0.65
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4675374
rs4675374 		0.882 0.200 2 203937855 intron variant T/C snv 0.65
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs10932037
rs10932037 		1.000 0.040 2 203960623 3 prime UTR variant C/T snv 8.2E-02
CUI: C1304470
Disease: Generalized vitiligo
Generalized vitiligo 		Skin and Connective Tissue Diseases 0.020 0.500 2 2008 2009
dbSNP: rs1022059218
rs1022059218 		0.925 0.200 2 203936863 missense variant G/A snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1022059218
rs1022059218 		0.925 0.200 2 203936863 missense variant G/A snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs10932029
rs10932029 		0.827 0.200 2 203937045 intron variant T/A;C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs10932029
rs10932029 		0.827 0.200 2 203937045 intron variant T/A;C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs10932029
rs10932029 		0.827 0.200 2 203937045 intron variant T/A;C snv
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2019 2019
dbSNP: rs10932029
rs10932029 		0.827 0.200 2 203937045 intron variant T/A;C snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs10932029
rs10932029 		0.827 0.200 2 203937045 intron variant T/A;C snv
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1559931
rs1559931 		1.000 0.080 2 203961006 3 prime UTR variant G/A snv 0.29
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs4404254
rs4404254 		0.925 0.160 2 203960563 3 prime UTR variant T/C snv 0.29
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4404254
rs4404254 		0.925 0.160 2 203960563 3 prime UTR variant T/C snv 0.29
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs4675379
rs4675379 		0.851 0.120 2 203961372 3 prime UTR variant G/C snv 0.15
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2015 2015
dbSNP: rs4675379
rs4675379 		0.851 0.120 2 203961372 3 prime UTR variant G/C snv 0.15
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2015 2015
dbSNP: rs4675379
rs4675379 		0.851 0.120 2 203961372 3 prime UTR variant G/C snv 0.15
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs4675379
rs4675379 		0.851 0.120 2 203961372 3 prime UTR variant G/C snv 0.15
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs746054383
rs746054383 		1.000 0.040 2 203956670 missense variant T/C snv 4.0E-06
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		Immune System Diseases 0.010 1.000 1 2009 2009