GDF5, growth differentiation factor 5, 8200

N. diseases: 238; N. variants: 24
Disease: BRACHYDACTYLY, TYPE A1 (disorder) ×
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: rs397514519
rs397514519 		0.925 0.080 20 35434220 missense variant G/A snv 4.0E-06
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2013 2013
dbSNP: rs74315389
rs74315389 		0.925 0.080 20 35433944 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2013 2013