Disease: BRACHYDACTYLY, TYPE A1, D ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs869025614
rs869025614 		1.000 4 95131411 missense variant A/C snv
CUI: C4225183
Disease: BRACHYDACTYLY, TYPE A1, D
BRACHYDACTYLY, TYPE A1, D 		0.800 1.000 1 2015 2015
dbSNP: rs1553941890
rs1553941890 		0.851 0.080 4 95129916 missense variant C/A snv
CUI: C4225183
Disease: BRACHYDACTYLY, TYPE A1, D
BRACHYDACTYLY, TYPE A1, D 		0.700 0
dbSNP: rs869025613
rs869025613 		1.000 4 95124982 splice acceptor variant G/A snv
CUI: C4225183
Disease: BRACHYDACTYLY, TYPE A1, D
BRACHYDACTYLY, TYPE A1, D 		0.700 0