FZD2, frizzled class receptor 2, 2535

N. diseases: 139; N. variants: 6
Disease: Omodysplasia 2 ×
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: rs1555657073
rs1555657073 		0.925 0.120 17 44558989 missense variant G/T snv
CUI: C2750355
Disease: Omodysplasia 2
Omodysplasia 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 4 2015 2018
dbSNP: rs1568105666
rs1568105666 		0.925 0.120 17 44559332 stop gained G/A snv
CUI: C2750355
Disease: Omodysplasia 2
Omodysplasia 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0