CD86, CD86 molecule, 942

N. diseases: 219; N. variants: 11
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: rs9282641
rs9282641 		1.000 0.080 3 122077921 splice region variant G/A snv 7.0E-02
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.820 1.000 3 2011 2018
dbSNP: rs4308217
rs4308217 		1.000 0.080 3 122074340 intron variant C/A;T snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.800 1.000 1 2011 2011
dbSNP: rs2681416
rs2681416 		0.925 0.120 3 122098766 intron variant G/A snv 0.26
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2681416
rs2681416 		0.925 0.120 3 122098766 intron variant G/A snv 0.26
CUI: C1334633
Disease: Mature B-Cell Neoplasm
Mature B-Cell Neoplasm 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2715274
rs2715274 		3 122062876 intron variant T/C snv 0.19
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs9831894
rs9831894 		0.882 0.120 3 122081640 intron variant A/C snv 0.31
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs9831894
rs9831894 		0.882 0.120 3 122081640 intron variant A/C snv 0.31
CUI: C4049006
Disease: Selective immunoglobulin A deficiency
Selective immunoglobulin A deficiency 		0.700 1.000 1 2016 2016
dbSNP: rs17281995
rs17281995 		0.763 0.360 3 122120794 3 prime UTR variant G/A;C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2011 2019
dbSNP: rs1129055
rs1129055 		0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.020 0.500 2 2018 2019
dbSNP: rs1129055
rs1129055 		0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.020 0.500 2 2018 2019
dbSNP: rs17281995
rs17281995 		0.763 0.360 3 122120794 3 prime UTR variant G/A;C snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2011 2014
dbSNP: rs1915087
rs1915087 		0.925 0.080 3 122119944 3 prime UTR variant T/C snv
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.020 1.000 2 2015 2018
dbSNP: rs1915087
rs1915087 		0.925 0.080 3 122119944 3 prime UTR variant T/C snv
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.020 1.000 2 2015 2018
dbSNP: rs1129055
rs1129055 		0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1129055
rs1129055 		0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1129055
rs1129055 		0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1129055
rs1129055 		0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1129055
rs1129055 		0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1129055
rs1129055 		0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2014 2014
dbSNP: rs1129055
rs1129055 		0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1129055
rs1129055 		0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1129055
rs1129055 		0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25
CUI: C0030809
Disease: Pemphigus Vulgaris
Pemphigus Vulgaris 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1129055
rs1129055 		0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1129055
rs1129055 		0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease 		Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1129055
rs1129055 		0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2010 2010