GDF5, growth differentiation factor 5, 8200

N. diseases: 238; N. variants: 24
Disease: MULTIPLE SYNOSTOSES SYNDROME 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: rs121909347
rs121909347 		1.000 0.080 20 35433991 missense variant C/T snv
CUI: C1832708
Disease: MULTIPLE SYNOSTOSES SYNDROME 2
MULTIPLE SYNOSTOSES SYNDROME 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 4 2006 2013
dbSNP: rs74315388
rs74315388 		0.882 0.080 20 35434102 missense variant C/A;T snv
CUI: C1832708
Disease: MULTIPLE SYNOSTOSES SYNDROME 2
MULTIPLE SYNOSTOSES SYNDROME 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 4 2006 2013
dbSNP: rs28936683
rs28936683 		0.882 0.080 20 35434093 missense variant A/G snv 7.0E-06
CUI: C1832708
Disease: MULTIPLE SYNOSTOSES SYNDROME 2
MULTIPLE SYNOSTOSES SYNDROME 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0