rs781096099, EVC2

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 5694333 splice donor variant A/C;G snv 8.0E-06 0.700 1.000 3 2007 2009
Weyers acrofacial dysostosis
CUI: C0457013
Disease: Weyers acrofacial dysostosis
21 0.925 0.160 4 5694333 splice donor variant A/C;G snv 8.0E-06 0.700 1.000 3 2007 2009