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: rs1457547311
rs1457547311 		0.851 0.080 2 113131082 synonymous variant G/A snv 4.0E-06
CUI: C0085695
Disease: Chronic gastritis
Chronic gastritis 		Digestive System Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs1457547311
rs1457547311 		0.851 0.080 2 113131082 synonymous variant G/A snv 4.0E-06
CUI: C0679408
Disease: Lesion of stomach
Lesion of stomach 		Digestive System Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs1457547311
rs1457547311 		0.851 0.080 2 113131082 synonymous variant G/A snv 4.0E-06
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2012 2012
dbSNP: rs1457547311
rs1457547311 		0.851 0.080 2 113131082 synonymous variant G/A snv 4.0E-06
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2012 2012
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: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 < 0.001 1 2016 2016
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: 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: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2006 2006
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: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		Respiratory Tract Diseases 0.020 1.000 2 2013 2014
dbSNP: rs10171849
rs10171849 		2 113108257 intron variant A/C snv 0.35
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs128964
rs128964 		2 113130226 intron variant A/G snv 0.21
CUI: C3815172
Disease: Interleukin 1 Beta Measurement
Interleukin 1 Beta Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs13404928
rs13404928 		2 113108948 intron variant G/A snv 0.28
CUI: C3815172
Disease: Interleukin 1 Beta Measurement
Interleukin 1 Beta Measurement 		0.700 1.000 1 2018 2018
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: rs1630153
rs1630153 		2 113112226 intron variant C/G;T snv
CUI: C3815172
Disease: Interleukin 1 Beta Measurement
Interleukin 1 Beta Measurement 		0.700 1.000 1 2018 2018
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: rs1794067
rs1794067 		2 113128807 intron variant A/G snv 0.74
CUI: C3815172
Disease: Interleukin 1 Beta Measurement
Interleukin 1 Beta Measurement 		0.700 1.000 1 2018 2018
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: rs2029582
rs2029582 		2 113106194 upstream gene variant T/C snv 0.56
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs2029582
rs2029582 		2 113106194 upstream gene variant T/C snv 0.56
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs2029582
rs2029582 		2 113106194 upstream gene variant T/C snv 0.56
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016