Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs74315387
rs74315387
GDF5 ; GDF5-AS1
1 1.000 0.080 20 35434216 stop gained C/T snv 0.800 1.000 1 1997 1997
dbSNP: rs1568731526
rs1568731526
GDF5 ; GDF5-AS1
1 1.000 0.080 20 35434271 frameshift variant C/- delins 0.700 1.000 1 2003 2003
dbSNP: rs863225041
rs863225041
BMPR1B
2 0.925 0.080 4 95114733 missense variant T/C snv 0.010 1.000 1 2015 2015