rs397517077, CBL

N. diseases: 10
Disease: Noonan Syndrome ×
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 0.700 1.000 1 2010 2010