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: rs397514668
rs397514668
GDF5 ; GDF5-AS1
1.000 0.080 20 35434276 missense variant C/T snv 4.0E-06
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		0.810 1.000 3 2005 2012
dbSNP: rs121909347
rs121909347
GDF5 ; GDF5-AS1
1.000 0.080 20 35433991 missense variant C/T snv
CUI: C1832708
Disease: MULTIPLE SYNOSTOSES SYNDROME 2
MULTIPLE SYNOSTOSES SYNDROME 2 		0.800 1.000 4 2006 2013
dbSNP: rs28936397
rs28936397
GDF5
1.000 0.080 20 35437412 missense variant T/C;G snv 8.0E-06; 4.0E-06
CUI: C1862103
Disease: Brachydactyly type C
Brachydactyly type C 		0.800 1.000 4 2004 2015
dbSNP: rs74315388
rs74315388
GDF5 ; GDF5-AS1
0.882 0.080 20 35434102 missense variant C/A;T snv
CUI: C1832708
Disease: MULTIPLE SYNOSTOSES SYNDROME 2
MULTIPLE SYNOSTOSES SYNDROME 2 		0.800 1.000 4 2006 2013
dbSNP: rs121909349
rs121909349
GDF5 ; GDF5-AS1
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: rs121909350
rs121909350
GDF5 ; GDF5-AS1
1.000 0.080 20 35434282 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C1856738
Disease: Fibular hypoplasia and complex brachydactyly
Fibular hypoplasia and complex brachydactyly 		0.800 1.000 3 2002 2008
dbSNP: rs121909351
rs121909351
GDF5 ; GDF5-AS1
1.000 0.080 20 35434109 missense variant G/T snv
CUI: C1856738
Disease: Fibular hypoplasia and complex brachydactyly
Fibular hypoplasia and complex brachydactyly 		0.800 1.000 3 2002 2008
dbSNP: rs74315388
rs74315388
GDF5 ; GDF5-AS1
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
GDF5 ; GDF5-AS1
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
dbSNP: rs397514519
rs397514519
GDF5 ; GDF5-AS1
0.925 0.080 20 35434220 missense variant G/A snv 4.0E-06
CUI: C3554446
Disease: BRACHYDACTYLY, TYPE A1, C
BRACHYDACTYLY, TYPE A1, C 		0.800 1.000 2 2010 2013
dbSNP: rs74315387
rs74315387
GDF5 ; GDF5-AS1
1.000 0.080 20 35434216 stop gained C/T snv
CUI: C0265260
Disease: Chondrodysplasia, Grebe type
Chondrodysplasia, Grebe type 		0.800 1.000 1 1997 1997
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: 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: C1832708
Disease: MULTIPLE SYNOSTOSES SYNDROME 2
MULTIPLE SYNOSTOSES SYNDROME 2 		0.700 0