FCGR3B, Fc fragment of IgG receptor IIIb, 2215

N. diseases: 291; N. variants: 8
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: rs560051377
rs560051377 		0.851 0.320 1 161624624 missense variant G/A;C snv 4.0E-06; 2.8E-05
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.040 1.000 4 2002 2010
dbSNP: rs1206736425
rs1206736425 		1 161626229 missense variant T/C snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2018 2018
dbSNP: rs1206736425
rs1206736425 		1 161626229 missense variant T/C snv
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs200215055
rs200215055 		0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs200215055
rs200215055 		0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs200215055
rs200215055 		0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06
CUI: C0398650
Disease: Immune thrombocytopenic purpura
Immune thrombocytopenic purpura 		Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs200215055
rs200215055 		0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs200215055
rs200215055 		0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06
CUI: C4727838
Disease: Advanced Melanoma
Advanced Melanoma 		0.010 1.000 1 2018 2018
dbSNP: rs200215055
rs200215055 		0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs200215055
rs200215055 		0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06
CUI: C0432487
Disease: Post-transplant lymphoproliferative disorder
Post-transplant lymphoproliferative disorder 		Infections; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs200215055
rs200215055 		0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06
CUI: C0031099
Disease: Periodontitis
Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs200215055
rs200215055 		0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs200215055
rs200215055 		0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs200215055
rs200215055 		0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06
CUI: C0010414
Disease: Infection by Cryptococcus neoformans
Infection by Cryptococcus neoformans 		Infections 0.010 1.000 1 2007 2007
dbSNP: rs372411058
rs372411058 		1.000 0.120 1 161626395 synonymous variant C/T snv 2.0E-05 4.2E-05
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs5030738
rs5030738 		1.000 0.040 1 161629864 missense variant G/A;T snv 3.8E-02
CUI: C0024530
Disease: Malaria
Malaria 		Infections 0.010 1.000 1 2014 2014
dbSNP: rs546229463
rs546229463 		0.925 0.040 1 161629912 missense variant T/C snv
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs546229463
rs546229463 		0.925 0.040 1 161629912 missense variant T/C snv
CUI: C0027947
Disease: Neutropenia
Neutropenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs560051377
rs560051377 		0.851 0.320 1 161624624 missense variant G/A;C snv 4.0E-06; 2.8E-05
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs560051377
rs560051377 		0.851 0.320 1 161624624 missense variant G/A;C snv 4.0E-06; 2.8E-05
CUI: C0403529
Disease: Anti-Glomerular Basement Membrane Disease
Anti-Glomerular Basement Membrane Disease 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs560051377
rs560051377 		0.851 0.320 1 161624624 missense variant G/A;C snv 4.0E-06; 2.8E-05
CUI: C0085436
Disease: Meningitis, Cryptococcal
Meningitis, Cryptococcal 		Infections; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs560051377
rs560051377 		0.851 0.320 1 161624624 missense variant G/A;C snv 4.0E-06; 2.8E-05
CUI: C0007684
Disease: Central Nervous System Infection
Central Nervous System Infection 		Infections; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs761007181
rs761007181 		1 161629900 missense variant A/C;T snv
CUI: C0019372
Disease: Herpesviridae Infections
Herpesviridae Infections 		Infections 0.010 1.000 1 2012 2012
dbSNP: rs762142186
rs762142186 		1.000 0.080 1 161624600 missense variant C/G;T snv 4.0E-06
CUI: C0018378
Disease: Guillain-Barre Syndrome
Guillain-Barre Syndrome 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012