IL36RN, interleukin 36 receptor antagonist, 26525

N. diseases: 47; N. variants: 22
Disease: Achondroplasia ×
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: rs144478519
rs144478519 		0.925 0.120 2 113062547 stop gained C/A;T snv 4.0E-06; 2.9E-03
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2013 2013