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: rs121917759
rs121917759
0.790 0.480 11 533466 missense variant G/A snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 9 2005 2014