CD226, CD226 molecule, 10666

N. diseases: 124; N. variants: 22
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: rs763361
rs763361
0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 2010 2013