rs760607210, EVC;CRMP1

N. diseases: 1
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.
Ellis-Van Creveld Syndrome
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
121 1.000 0.120 4 5753840 frameshift variant G/- delins 4.0E-06 0.700 1.000 1 2013 2013