Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28936683
rs28936683
GDF5 ; GDF5-AS1
0.882 0.080 20 35434093 missense variant A/G snv 7.0E-06
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		0.800 0
dbSNP: rs28936683
rs28936683
GDF5 ; GDF5-AS1
0.882 0.080 20 35434093 missense variant A/G snv 7.0E-06
CUI: C1856738
Disease: Fibular hypoplasia and complex brachydactyly
Fibular hypoplasia and complex brachydactyly 		0.800 0
dbSNP: rs28936683
rs28936683
GDF5 ; GDF5-AS1
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 		0.700 0