rs137852927, 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 5576247 stop gained G/A snv 8.0E-05 7.7E-05 0.700 1.000 4 2002 2015
Weyers acrofacial dysostosis
CUI: C0457013
Disease: Weyers acrofacial dysostosis
21 0.925 0.160 4 5576247 stop gained G/A snv 8.0E-05 7.7E-05 0.700 0