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: rs28936397
rs28936397
GDF5
1 1.000 0.080 20 35437412 missense variant T/C;G snv 8.0E-06; 4.0E-06 0.800 1.000 4 2004 2015
dbSNP: rs121909348
rs121909348
GDF5 ; GDF5-AS1
1 1.000 0.080 20 35433954 stop gained A/C snv 0.700 0
dbSNP: rs74315386
rs74315386
GDF5 ; GDF5-AS1
1 1.000 0.080 20 35434514 stop gained G/A snv 0.700 0
dbSNP: rs886039878
rs886039878
GDF5 ; GDF5-AS1
1 1.000 0.080 20 35434018 missense variant C/T snv 0.700 0
dbSNP: rs121434419
rs121434419
BMPR1B
2 0.925 0.080 4 95154621 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs140047318
rs140047318
BMPR1B
3 0.882 0.080 4 95152757 missense variant G/A;C;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs368375586
rs368375586
GDF5 ; GDF5-AS1
1 1.000 0.080 20 35434459 missense variant C/A;T snv 6.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs766435538
rs766435538
LTBP2
1 1.000 0.080 14 74603676 missense variant G/A snv 7.0E-06 0.010 1.000 1 2013 2013