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: rs121908425
rs121908425 		0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 3 2000 2018
dbSNP: rs527255616
rs527255616 		0.925 0.160 4 5745274 frameshift variant -/T delins 1.6E-05; 4.0E-06 7.0E-06
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 2 2007 2009
dbSNP: rs753014919
rs753014919 		0.925 0.160 4 5783682 frameshift variant C/- del 1.2E-04
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 2 2007 2013
dbSNP: rs1017946059
rs1017946059 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs121908426
rs121908426 		0.925 0.160 4 5745321 missense variant T/C snv 4.8E-05 7.0E-06
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2000 2000
dbSNP: rs1446547358
rs1446547358 		0.925 0.160 4 5798724 stop gained C/T snv 4.1E-06 1.4E-05
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1553873969
rs1553873969 		0.925 0.160 4 5748262 frameshift variant -/AGCC delins
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1560340993
rs1560340993 		0.925 0.160 4 5753048 frameshift variant C/- delins
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
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