GDF5, growth differentiation factor 5, 8200

N. diseases: 238; N. variants: 24
Disease: SYMPHALANGISM, PROXIMAL, 1B ×
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: rs121909349
rs121909349 		0.882 0.040 20 35434297 missense variant A/C snv
CUI: C3809104
Disease: SYMPHALANGISM, PROXIMAL, 1B
SYMPHALANGISM, PROXIMAL, 1B 		0.800 1.000 3 2005 2008
dbSNP: rs74315388
rs74315388 		0.882 0.080 20 35434102 missense variant C/A;T snv
CUI: C3809104
Disease: SYMPHALANGISM, PROXIMAL, 1B
SYMPHALANGISM, PROXIMAL, 1B 		0.800 1.000 3 2005 2008
dbSNP: rs74315389
rs74315389 		0.925 0.080 20 35433944 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C3809104
Disease: SYMPHALANGISM, PROXIMAL, 1B
SYMPHALANGISM, PROXIMAL, 1B 		0.800 1.000 3 2005 2008