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: rs121434418
rs121434418
BMPR1B
1.000 0.080 4 95154620 missense variant C/T snv
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		0.810 1.000 2 2003 2006
dbSNP: rs121434419
rs121434419
BMPR1B
0.925 0.080 4 95154621 missense variant G/A snv
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		0.810 1.000 2 2003 2006
dbSNP: rs121434417
rs121434417
BMPR1B
1.000 0.080 4 95129875 missense variant T/A snv
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		0.800 1.000 2 2003 2006
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