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: rs1553655558
rs1553655558
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0