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: rs1554617582
rs1554617582
0.925 0.080 8 115418427 frameshift variant -/A delins
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome
Musculoskeletal Diseases 0.700 0
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome
Musculoskeletal Diseases 0.700 0