GDF5, growth differentiation factor 5, 8200

N. diseases: 238; N. variants: 24
Disease: BRACHYDACTYLY, TYPE A2 ×
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: rs397514668
rs397514668 		1.000 0.080 20 35434276 missense variant C/T snv 4.0E-06
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 3 2005 2012
dbSNP: rs28936683
rs28936683 		0.882 0.080 20 35434093 missense variant A/G snv 7.0E-06
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 0