EVC, EvC ciliary complex subunit 1, 2121

N. diseases: 104; N. variants: 65
Disease: Weyers acrofacial dysostosis ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs755381180
rs755381180 		0.882 0.160 4 5745303 inframe deletion AAG/- delins 1.6E-05 2.8E-05
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0