EVC2, EvC ciliary complex subunit 2, 132884

N. diseases: 106; N. variants: 75
Disease: Ellis-Van Creveld Syndrome ×
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: rs137852927
rs137852927 		0.925 0.160 4 5576247 stop gained G/A snv 8.0E-05 7.7E-05
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 4 2002 2015