Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1017946059
rs1017946059
EVC
0.925 0.160 4 5731657 missense variant G/A snv 8.1E-06 7.0E-06
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.800 1.000 2 2010 2013
dbSNP: rs1017946059
rs1017946059
EVC
0.925 0.160 4 5731657 missense variant G/A snv 8.1E-06 7.0E-06
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		0.700 1.000 1 2010 2010