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: rs1555630216
rs1555630216
0.790 0.160 18 10714931 splice acceptor variant C/T snv
CUI: C0749379
Disease: Thoracolumbar scoliosis
Thoracolumbar scoliosis
Musculoskeletal Diseases 0.700 0
dbSNP: rs1555648288
rs1555648288
0.790 0.160 18 10795003 splice acceptor variant C/T snv
CUI: C0749379
Disease: Thoracolumbar scoliosis
Thoracolumbar scoliosis
Musculoskeletal Diseases 0.700 0