IL18R1, interleukin 18 receptor 1, 8809

N. diseases: 23; N. variants: 34
Source: GWASCAT ×
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: rs1420101
rs1420101 		0.827 0.280 2 102341256 synonymous variant C/T snv 0.33 0.35
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.800 1.000 1 2009 2009
dbSNP: rs5833013
rs5833013 		2 102352407 intron variant -/TA delins
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs6543119
rs6543119 		2 102346612 intron variant A/T snv 0.36
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2018 2018
dbSNP: rs9807989
rs9807989 		1.000 0.080 2 102354740 intron variant T/C;G snv 0.46
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
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: rs72823641
rs72823641 		0.882 0.080 2 102319699 intron variant T/A;C snv
CUI: C0741260
Disease: Adult onset asthma
Adult onset asthma 		0.700 1.000 1 2019 2019
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: rs13014644
rs13014644 		2 102354903 intron variant G/T snv 9.6E-02
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: rs2001461
rs2001461 		2 102390760 intron variant T/C snv 0.78
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs34418941
rs34418941 		2 102356208 non coding transcript exon variant -/CT delins 7.6E-04
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: rs11465606
rs11465606 		2 102371840 intron variant C/A snv 1.6E-02
CUI: C4268744
Disease: Atypical femoral fracture
Atypical femoral fracture 		0.700 1.000 1 2019 2019
dbSNP: rs12712135
rs12712135 		2 102314488 intron variant A/G snv 0.55
CUI: C4553157
Disease: Interleukin 1 Receptor-Like 1 Measurement
Interleukin 1 Receptor-Like 1 Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs3771167
rs3771167 		2 102369728 intron variant A/G snv 0.11
CUI: C4553157
Disease: Interleukin 1 Receptor-Like 1 Measurement
Interleukin 1 Receptor-Like 1 Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs13015714
rs13015714 		0.882 0.200 2 102355405 intron variant G/T snv 0.77
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.800 1.000 2 2012 2015
dbSNP: rs12987977
rs12987977 		0.827 0.120 2 102358876 intron variant T/G snv 0.31
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs12987977
rs12987977 		0.827 0.120 2 102358876 intron variant T/G snv 0.31
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs12987977
rs12987977 		0.827 0.120 2 102358876 intron variant T/G snv 0.31
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
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: rs13001325
rs13001325 		1.000 0.040 2 102322576 intron variant C/T snv 0.30
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1420098
rs1420098 		2 102367819 splice region variant T/C snv 0.35 0.33
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs13015714
rs13015714 		0.882 0.200 2 102355405 intron variant G/T snv 0.77
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.810 1.000 1 2008 2009
dbSNP: rs10865050
rs10865050 		2 102324851 intron variant G/A snv 0.18
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2017 2017