rs794726665, 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 0.120 4 5793722 splice region variant G/A;T snv 6.5E-06; 6.5E-06 0.700 1.000 3 2000 2013
Majewski Syndrome
CUI: C0024507
Disease: Majewski Syndrome
31 0.925 0.120 4 5793722 splice region variant G/A;T snv 6.5E-06; 6.5E-06 0.700 0