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: rs315936
rs315936 		2 113123370 intron variant T/C;G snv
CUI: C3815172
Disease: Interleukin 1 Beta Measurement
Interleukin 1 Beta Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs315952
rs315952 		0.763 0.400 2 113132727 missense variant T/A;C snv 4.0E-06; 0.31
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs315952
rs315952 		0.763 0.400 2 113132727 missense variant T/A;C snv 4.0E-06; 0.31
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs315952
rs315952 		0.763 0.400 2 113132727 missense variant T/A;C snv 4.0E-06; 0.31
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2015 2015
dbSNP: rs315952
rs315952 		0.763 0.400 2 113132727 missense variant T/A;C snv 4.0E-06; 0.31
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2011 2011
dbSNP: rs315952
rs315952 		0.763 0.400 2 113132727 missense variant T/A;C snv 4.0E-06; 0.31
CUI: C0748355
Disease: Acute respiratory distress
Acute respiratory distress 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs315952
rs315952 		0.763 0.400 2 113132727 missense variant T/A;C snv 4.0E-06; 0.31
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs315952
rs315952 		0.763 0.400 2 113132727 missense variant T/A;C snv 4.0E-06; 0.31
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs315952
rs315952 		0.763 0.400 2 113132727 missense variant T/A;C snv 4.0E-06; 0.31
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs4251967
rs4251967 		2 113117391 intron variant G/C;T snv
CUI: C3815172
Disease: Interleukin 1 Beta Measurement
Interleukin 1 Beta Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs495282
rs495282 		2 113129717 non coding transcript exon variant G/A;C snv
CUI: C3815172
Disease: Interleukin 1 Beta Measurement
Interleukin 1 Beta Measurement 		0.700 1.000 1 2018 2018
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: rs55709272
rs55709272 		2 113109711 intron variant T/A;C snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs55709272
rs55709272 		2 113109711 intron variant T/A;C snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs55709272
rs55709272 		2 113109711 intron variant T/A;C snv
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs55709272
rs55709272 		2 113109711 intron variant T/A;C snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs55709272
rs55709272 		2 113109711 intron variant T/A;C snv
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
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: 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: 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: 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: rs4252040
rs4252040 		2 113131964 intron variant T/G snv 2.8E-05
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4252040
rs4252040 		2 113131964 intron variant T/G snv 2.8E-05
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012