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: 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: 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: 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: 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: rs315952
rs315952 		0.763 0.400 2 113132727 missense variant T/A;C snv 4.0E-06; 0.31
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.020 0.500 2 2006 2013
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: rs447713
rs447713 		0.851 0.160 2 113130095 non coding transcript exon variant A/G snv 0.21
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs447713
rs447713 		0.851 0.160 2 113130095 non coding transcript exon variant A/G snv 0.21
CUI: C3662483
Disease: Allergic sensitization
Allergic sensitization 		0.010 1.000 1 2006 2006
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: 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: rs2234663
rs2234663 		0.716 0.480 2 113130529 intron variant ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC delins
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: 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: 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: 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: rs419598
rs419598 		0.742 0.280 2 113129630 synonymous variant T/C snv 0.26 0.21
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs419598
rs419598 		0.742 0.280 2 113129630 synonymous variant T/C snv 0.26 0.21
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2010 2010
dbSNP: rs452204
rs452204 		0.807 0.200 2 113131484 intron variant G/A snv 0.45
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs452204
rs452204 		0.807 0.200 2 113131484 intron variant G/A snv 0.45
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
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