EVC2, EvC ciliary complex subunit 2, 132884

N. diseases: 106; N. variants: 75
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: rs781096099
rs781096099 		0.925 0.160 4 5694333 splice donor variant A/C;G snv 8.0E-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 3 2007 2009
dbSNP: rs781096099
rs781096099 		0.925 0.160 4 5694333 splice donor variant A/C;G snv 8.0E-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 2007 2009
dbSNP: rs137852926
rs137852926 		1.000 0.120 4 5681282 missense variant A/C snv 8.0E-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 2002 2003
dbSNP: rs137852928
rs137852928 		1.000 0.120 4 5584832 missense variant G/A;T snv 1.6E-04; 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 2 2002 2003
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: rs548681312
rs548681312 		1.000 0.120 4 5622562 stop gained G/A snv 8.0E-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 2009 2016
dbSNP: rs73198165
rs73198165 		1.000 0.120 4 5625766 stop gained G/A;T snv 3.2E-05; 3.9E-03
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 2012
dbSNP: rs886037763
rs886037763 		1.000 0.120 4 5615505 frameshift variant T/- 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 2 2007 2016
dbSNP: rs140854723
rs140854723 		4 5634585 intron variant G/A;T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1444216093
rs1444216093 		1.000 4 5632031 missense variant G/A;C snv
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2019 2019
dbSNP: rs1553815019
rs1553815019 		0.925 0.120 4 5574684 splice donor variant 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 1 2009 2009
dbSNP: rs1553850677
rs1553850677 		1.000 0.120 4 5685417 stop gained C/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 1 2016 2016
dbSNP: rs753581033
rs753581033 		1.000 0.120 4 5563115 frameshift variant G/- del 2.0E-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 1 2009 2009
dbSNP: rs755789146
rs755789146 		1.000 0.120 4 5665626 splice acceptor variant GCCGTGGTGCGGCAGAACCTGTGGAG/- 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 2010 2010
dbSNP: rs756096100
rs756096100 		1.000 0.080 4 5568481 missense variant C/A;G;T snv 4.9E-06; 4.9E-06
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs758420403
rs758420403 		1.000 4 5689210 missense variant A/C snv 4.0E-06
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2019 2019
dbSNP: rs777505711
rs777505711 		1.000 0.120 4 5665627 frameshift variant T/- del
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 2007 2007
dbSNP: rs886037764
rs886037764 		1.000 0.120 4 5576371 stop gained C/A;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 2016 2016
dbSNP: rs1221185345
rs1221185345 		0.925 0.160 4 5708363 frameshift variant GATCCCGGGG/- 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: rs1221185345
rs1221185345 		0.925 0.160 4 5708363 frameshift variant GATCCCGGGG/- 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 0
dbSNP: rs1294715119
rs1294715119 		1.000 0.120 4 5685368 splice donor variant A/G 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 0
dbSNP: rs1305301849
rs1305301849 		1.000 0.120 4 5565319 stop gained G/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 0
dbSNP: rs1307502841
rs1307502841 		1.000 0.120 4 5584622 splice donor variant 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 0
dbSNP: rs1431987950
rs1431987950 		1.000 0.120 4 5625832 stop gained TCTGCTTGATTGAAA/- del 8.0E-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 0
dbSNP: rs1447633595
rs1447633595 		1.000 0.120 4 5694334 splice donor variant C/A;G;T snv 8.0E-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 0