CCDC40, coiled-coil domain containing 40, 55036

N. diseases: 49; N. variants: 29
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: rs387907092
rs387907092 		1.000 0.120 17 80082020 stop gained C/A;T snv 4.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs387907091
rs387907091 		1.000 0.120 17 80058649 stop gained C/T snv
CUI: C3151137
Disease: CILIARY DYSKINESIA, PRIMARY, 15
CILIARY DYSKINESIA, PRIMARY, 15 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs387907092
rs387907092 		1.000 0.120 17 80082020 stop gained C/A;T snv 4.0E-06
CUI: C3151137
Disease: CILIARY DYSKINESIA, PRIMARY, 15
CILIARY DYSKINESIA, PRIMARY, 15 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs387907093
rs387907093 		1.000 0.120 17 80058885 stop gained C/A;G;T snv 4.0E-06
CUI: C3151137
Disease: CILIARY DYSKINESIA, PRIMARY, 15
CILIARY DYSKINESIA, PRIMARY, 15 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs587778819
rs587778819 		1.000 0.160 17 80089876 frameshift variant -/CTGT;TGT ins 3.6E-05
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs587778819
rs587778819 		1.000 0.160 17 80089876 frameshift variant -/CTGT;TGT ins 3.6E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs745993158
rs745993158 		1.000 0.160 17 80082059 splice donor variant G/A snv 4.0E-06
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs754867753
rs754867753 		1.000 0.120 17 80050085 stop gained C/T snv 2.4E-05 7.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs754867753
rs754867753 		1.000 0.120 17 80050085 stop gained C/T snv 2.4E-05 7.0E-06
CUI: C3151137
Disease: CILIARY DYSKINESIA, PRIMARY, 15
CILIARY DYSKINESIA, PRIMARY, 15 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0