IL1RL1, interleukin 1 receptor like 1, 9173

N. diseases: 117; N. variants: 51
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: rs13001325
rs13001325 		1.000 0.040 2 102322576 intron variant C/T snv 0.30
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs10204137
rs10204137 		0.925 0.160 2 102351752 missense variant A/G;T snv 0.34
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs10208293
rs10208293 		0.882 0.160 2 102349850 intron variant G/A snv 0.33
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs13431828
rs13431828 		0.925 0.160 2 102338193 5 prime UTR variant C/T snv 0.18
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2160203
rs2160203 		1.000 0.080 2 102344364 3 prime UTR variant A/C;G snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs4988957
rs4988957 		1.000 0.080 2 102351615 missense variant T/C;G snv 0.34; 4.0E-06 0.46
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1420101
rs1420101 		0.827 0.280 2 102341256 synonymous variant C/T snv 0.33 0.35
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs11685424
rs11685424 		0.925 0.040 2 102310521 upstream gene variant G/A snv 0.54
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs950880
rs950880 		1.000 0.040 2 102316102 intron variant C/A snv 0.30
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3821204
rs3821204 		0.807 0.160 2 102343821 3 prime UTR variant C/G snv 0.21
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs72823641
rs72823641 		0.882 0.080 2 102319699 intron variant T/A;C snv
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 2 2019 2019
dbSNP: rs10208293
rs10208293 		0.882 0.160 2 102349850 intron variant G/A snv 0.33
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1861245
rs1861245 		0.925 0.080 2 102350446 intron variant C/T snv
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs4988958
rs4988958 		1.000 0.080 2 102351825 synonymous variant T/C snv 0.34 0.46
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1420101
rs1420101 		0.827 0.280 2 102341256 synonymous variant C/T snv 0.33 0.35
CUI: C0006271
Disease: Bronchiolitis
Bronchiolitis 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1921622
rs1921622 		1.000 0.080 2 102349607 intron variant G/A snv 0.42
CUI: C0006271
Disease: Bronchiolitis
Bronchiolitis 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs201256810
rs201256810 		0.925 0.080 2 102348073 missense variant C/T snv
CUI: C0085129
Disease: Bronchial Hyperreactivity
Bronchial Hyperreactivity 		Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11676124
rs11676124 		2 102324878 intron variant T/C snv 0.66
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs13029918
rs13029918 		2 102340831 splice region variant A/G snv 1.6E-02 1.7E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1861246
rs1861246 		2 102350323 intron variant T/C snv 0.78
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs58933240
rs58933240 		2 102326460 intron variant A/C snv 0.52
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs5833013
rs5833013 		2 102352407 intron variant -/TA delins
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs3771180
rs3771180 		1.000 0.080 2 102337157 5 prime UTR variant G/A;T snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.820 1.000 4 2011 2019
dbSNP: rs10197862
rs10197862 		0.925 0.120 2 102350089 intron variant A/G snv 0.18
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.810 1.000 3 2011 2014
dbSNP: rs1420101
rs1420101 		0.827 0.280 2 102341256 synonymous variant C/T snv 0.33 0.35
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.710 1.000 3 2018 2019