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: rs1553212868
rs1553212868
0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0