IL1RL1, interleukin 1 receptor like 1, 9173

N. diseases: 117; N. variants: 51
Disease: Craniosynostosis ×
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: 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