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: rs748379243
rs748379243
0.882 0.200 5 60928961 splice acceptor variant T/A;C snv 4.0E-06 7.0E-06
CUI: C0456070
Disease: Growth delay
Growth delay
0.700 0
dbSNP: rs897535441
rs897535441
0.925 0.160 5 60887521 splice acceptor variant C/G;T snv
CUI: C0456070
Disease: Growth delay
Growth delay
0.700 0