DNAAF3, dynein axonemal assembly factor 3, 352909

N. diseases: 84; N. variants: 11
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: rs387907151
rs387907151 		0.925 0.160 19 55165904 missense variant A/G snv
CUI: C1847554
Disease: CILIARY DYSKINESIA, PRIMARY, 2 (disorder)
CILIARY DYSKINESIA, PRIMARY, 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.800 1.000 1 2012 2012
dbSNP: rs387907152
rs387907152 		0.925 0.160 19 55165427 stop gained G/A snv 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 1.000 1 2012 2012
dbSNP: rs543369426
rs543369426 		19 55166064 splice acceptor variant C/T snv 2.0E-05 9.1E-05
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 2012 2012
dbSNP: rs756430359
rs756430359 		19 55160691 frameshift variant C/-;CC delins 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 2012 2012
dbSNP: rs1060502831
rs1060502831 		19 55161694 frameshift variant -/CGTCG delins
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: rs1159887305
rs1159887305 		19 55162240 frameshift variant GCGGGCGCAGC/- del
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: rs1349668884
rs1349668884 		1.000 0.160 19 55159416 frameshift variant -/T delins
CUI: C1847554
Disease: CILIARY DYSKINESIA, PRIMARY, 2 (disorder)
CILIARY DYSKINESIA, PRIMARY, 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1349668884
rs1349668884 		1.000 0.160 19 55159416 frameshift variant -/T delins
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: rs387907151
rs387907151 		0.925 0.160 19 55165904 missense variant A/G snv
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: rs387907152
rs387907152 		0.925 0.160 19 55165427 stop gained G/A snv 7.0E-06
CUI: C1847554
Disease: CILIARY DYSKINESIA, PRIMARY, 2 (disorder)
CILIARY DYSKINESIA, PRIMARY, 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs387907152
rs387907152 		0.925 0.160 19 55165427 stop gained G/A snv 7.0E-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: rs397515395
rs397515395 		0.925 0.160 19 55161684 frameshift variant -/A delins 7.3E-06; 7.3E-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: rs397515395
rs397515395 		0.925 0.160 19 55161684 frameshift variant -/A delins 7.3E-06; 7.3E-06
CUI: C1847554
Disease: CILIARY DYSKINESIA, PRIMARY, 2 (disorder)
CILIARY DYSKINESIA, PRIMARY, 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs745465871
rs745465871 		19 55165930 frameshift variant -/A delins 1.2E-05 3.5E-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: rs770143722
rs770143722 		19 55161292 splice donor variant C/G snv 5.8E-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: rs770403610
rs770403610 		1.000 0.160 19 55162263 stop gained C/T snv 2.1E-05
CUI: C1847554
Disease: CILIARY DYSKINESIA, PRIMARY, 2 (disorder)
CILIARY DYSKINESIA, PRIMARY, 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs770403610
rs770403610 		1.000 0.160 19 55162263 stop gained C/T snv 2.1E-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