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: rs727504747
rs727504747
1.000 0.080 11 533880 missense variant GC/AG mnv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0