IL1RN, interleukin 1 receptor antagonist, 3557

N. diseases: 701; N. variants: 52
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: rs1380437028
rs1380437028 		1.000 0.080 2 113132708 missense variant C/G snv 7.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1688075
rs1688075 		1.000 0.120 2 113100619 regulatory region variant C/A snv 0.91
CUI: C1384600
Disease: Systemic onset juvenile chronic arthritis
Systemic onset juvenile chronic arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1794068
rs1794068 		1.000 0.040 2 113128926 intron variant G/A snv 0.21
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 < 0.001 1 2010 2010
dbSNP: rs1794068
rs1794068 		1.000 0.040 2 113128926 intron variant G/A snv 0.21
CUI: C3815172
Disease: Interleukin 1 Beta Measurement
Interleukin 1 Beta Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs201638660
rs201638660 		1.000 0.080 2 113131111 missense variant G/T snv 2.1E-04 2.5E-04
CUI: C0410422
Disease: Chronic multifocal osteomyelitis
Chronic multifocal osteomyelitis 		Infections; Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2637988
rs2637988 		1.000 0.120 2 113119202 intron variant G/A snv 0.53
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs315921
rs315921 		1.000 2 113114474 intron variant G/A snv 0.12
CUI: C0741975
Disease: carotid disease
carotid disease 		0.010 1.000 1 2010 2010
dbSNP: rs315934
rs315934 		1.000 2 113126129 intron variant T/C snv 0.15
CUI: C0741975
Disease: carotid disease
carotid disease 		0.010 1.000 1 2010 2010
dbSNP: rs454078
rs454078 		1.000 0.120 2 113131216 intron variant A/T snv 0.21
CUI: C1302547
Disease: Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma
Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs454078
rs454078 		1.000 0.120 2 113131216 intron variant A/T snv 0.21
CUI: C3815172
Disease: Interleukin 1 Beta Measurement
Interleukin 1 Beta Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs750849816
rs750849816 		1.000 0.120 2 113131075 missense variant A/G snv 8.0E-06
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs121913161
rs121913161 		1.000 0.080 2 113131068 stop gained G/T snv 3.2E-05 7.0E-06
CUI: C2748507
Disease: INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY
INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121913162
rs121913162 		1.000 0.080 2 113129619 stop gained C/T snv
CUI: C2748507
Disease: INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY
INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs2234678
rs2234678 		0.925 0.080 2 113117988 5 prime UTR variant A/G snv 0.25 0.21
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2234678
rs2234678 		0.925 0.080 2 113117988 5 prime UTR variant A/G snv 0.25 0.21
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs315951
rs315951 		0.925 0.160 2 113133009 3 prime UTR variant C/G snv 0.34
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs315951
rs315951 		0.925 0.160 2 113133009 3 prime UTR variant C/G snv 0.34
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs4252019
rs4252019 		0.882 0.160 2 113131542 intron variant C/T snv 0.25
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4252019
rs4252019 		0.882 0.160 2 113131542 intron variant C/T snv 0.25
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4252019
rs4252019 		0.882 0.160 2 113131542 intron variant C/T snv 0.25
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs537765533
rs537765533 		0.882 0.080 2 113132839 missense variant G/C snv 2.0E-05
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs537765533
rs537765533 		0.882 0.080 2 113132839 missense variant G/C snv 2.0E-05
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs537765533
rs537765533 		0.882 0.080 2 113132839 missense variant G/C snv 2.0E-05
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs928940
rs928940 		0.882 0.120 2 113119918 intron variant G/T snv 0.78
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs928940
rs928940 		0.882 0.120 2 113119918 intron variant G/T snv 0.78
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010