rs753014919, CRMP1;EVC

N. diseases: 2
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 0.925 0.160 4 5783682 frameshift variant C/- del 1.2E-04 0.700 1.000 2 2007 2013
Weyers acrofacial dysostosis
CUI: C0457013
Disease: Weyers acrofacial dysostosis
21 0.925 0.160 4 5783682 frameshift variant C/- del 1.2E-04 0.700 1.000 2 2007 2013