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: rs1553764834
rs1553764834
1.000 0.080 3 160366102 frameshift variant AGAA/- delins
Short rib-polydactyly syndrome, Beemer type
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0