EVC, EvC ciliary complex subunit 1, 2121

N. diseases: 104; N. variants: 65
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: rs1017946059
rs1017946059 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.800 1.000 2 2010 2013
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: rs121908425
rs121908425 		0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-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 3 2000 2018
dbSNP: rs121908426
rs121908426 		0.925 0.160 4 5745321 missense variant T/C snv 4.8E-05 7.0E-06
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 3 2000 2013
dbSNP: rs35953626
rs35953626 		1.000 0.120 4 5753797 missense variant G/A snv 1.8E-02 7.1E-02
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 3 2000 2010
dbSNP: rs794726665
rs794726665 		0.925 0.120 4 5793722 splice region variant G/A;T snv 6.5E-06; 6.5E-06
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 3 2000 2013
dbSNP: rs1424976594
rs1424976594 		1.000 0.120 4 5810453 splice region variant A/G snv 8.5E-06
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 2 2013 2017
dbSNP: rs1553857801
rs1553857801 		1.000 0.120 4 5711382 start lost T/A snv
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 2 2009 2017
dbSNP: rs1553889992
rs1553889992 		1.000 0.120 4 5793644 stop gained C/T snv
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 2 2007 2010
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: rs527255616
rs527255616 		0.925 0.160 4 5745274 frameshift variant -/T delins 1.6E-05; 4.0E-06 7.0E-06
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 2 2007 2009
dbSNP: rs753014919
rs753014919 		0.925 0.160 4 5783682 frameshift variant C/- del 1.2E-04
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 2 2007 2013
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: rs1262933856
rs1262933856 		1.000 0.120 4 5793607 splice acceptor variant G/A snv 6.4E-06 7.0E-06
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 1 2013 2013
dbSNP: rs1553871792
rs1553871792 		1.000 0.120 4 5741760 frameshift variant -/A delins
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 1 2013 2013
dbSNP: rs1553873969
rs1553873969 		0.925 0.160 4 5748262 frameshift variant -/AGCC delins
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 1 2013 2013
dbSNP: rs35926225
rs35926225 		4 5810425 missense variant G/A;C snv 6.8E-04
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs35926225
rs35926225 		4 5810425 missense variant G/A;C snv 6.8E-04
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3774854
rs3774854 		0.925 0.120 4 5709641 upstream gene variant G/A snv 0.33
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2017 2017
dbSNP: rs3774854
rs3774854 		0.925 0.120 4 5709641 upstream gene variant G/A snv 0.33
CUI: C0151544
Disease: Gastrointestinal carcinoma
Gastrointestinal carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs748523193
rs748523193 		0.925 0.120 4 5729369 stop gained C/A;T snv 4.0E-06; 4.0E-06
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 1 2009 2009
dbSNP: rs760607210
rs760607210 		1.000 0.120 4 5753840 frameshift variant G/- delins 4.0E-06
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 1 2013 2013
dbSNP: rs764397417
rs764397417 		1.000 0.120 4 5783666 stop gained G/T snv 4.0E-06
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 1 2009 2009