DNAH5, dynein axonemal heavy chain 5, 1767

N. diseases: 93; N. variants: 137
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: rs79967166
rs79967166 		1.000 0.160 5 13754203 missense variant C/G snv
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.800 1.000 4 2000 2014
dbSNP: rs116128702
rs116128702 		1.000 5 13923369 stop gained C/A;G;T snv 4.0E-06; 2.4E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 2002 2013
dbSNP: rs116128702
rs116128702 		1.000 5 13923369 stop gained C/A;G;T snv 4.0E-06; 2.4E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 6 2002 2013
dbSNP: rs116128702
rs116128702 		1.000 5 13923369 stop gained C/A;G;T snv 4.0E-06; 2.4E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 2002 2013
dbSNP: rs375053470
rs375053470 		5 13794031 stop gained G/A snv 1.6E-05; 4.0E-06 1.4E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 6 2002 2013
dbSNP: rs755136231
rs755136231 		1.000 0.160 5 13791995 frameshift variant TTTGGTTC/- del 2.0E-05 1.4E-05
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 1.000 6 2002 2016
dbSNP: rs755407407
rs755407407 		0.925 0.160 5 13762777 missense variant C/G snv 8.0E-06 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 6 2002 2013
dbSNP: rs755407407
rs755407407 		0.925 0.160 5 13762777 missense variant C/G snv 8.0E-06 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 2002 2013
dbSNP: rs781469274
rs781469274 		5 13792128 stop gained G/A snv 3.2E-05 7.0E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 6 2002 2013
dbSNP: rs981267400
rs981267400 		5 13871562 splice donor variant A/G snv 4.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 6 2002 2013
dbSNP: rs397515540
rs397515540 		1.000 0.160 5 13753290 frameshift variant A/- del 1.6E-04 2.1E-04
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 1.000 5 2006 2014
dbSNP: rs397515540
rs397515540 		1.000 0.160 5 13753290 frameshift variant A/- del 1.6E-04 2.1E-04
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 4 2006 2014
dbSNP: rs548521732
rs548521732 		1.000 0.160 5 13839530 splice acceptor variant T/C snv 4.0E-05 2.8E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 4 2002 2016
dbSNP: rs575017579
rs575017579 		5 13840968 stop gained G/A;C snv 2.8E-05; 8.0E-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 4 2009 2016
dbSNP: rs755407407
rs755407407 		0.925 0.160 5 13762777 missense variant C/G snv 8.0E-06 7.0E-06
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 1.000 4 2000 2014
dbSNP: rs77377082
rs77377082 		1.000 0.160 5 13788835 missense variant A/G snv 4.0E-06
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 1.000 4 2000 2014
dbSNP: rs78346432
rs78346432 		1.000 0.160 5 13735860 missense variant G/A;C snv 1.6E-05; 4.0E-06
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 1.000 4 2000 2014
dbSNP: rs78484669
rs78484669 		1.000 0.160 5 13820396 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 1.000 4 2000 2014
dbSNP: rs200901816
rs200901816 		1.000 0.160 5 13701289 stop gained G/A snv 6.0E-05 6.3E-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 3 2006 2015
dbSNP: rs571919972
rs571919972 		1.000 0.160 5 13758881 stop gained G/A snv 5.2E-05 4.2E-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 3 2012 2014
dbSNP: rs727504802
rs727504802 		5 13770905 frameshift variant C/- delins
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 3 2002 2013
dbSNP: rs752925056
rs752925056 		5 13841051 frameshift variant -/T delins 6.0E-05 4.9E-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 3 2002 2016
dbSNP: rs753130398
rs753130398 		5 13788865 missense variant C/T snv 1.2E-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 3 2013 2016
dbSNP: rs753614861
rs753614861 		1.000 0.160 5 13830026 missense variant C/T snv 2.0E-05 5.6E-05
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 1.000 3 2011 2013
dbSNP: rs753614861
rs753614861 		1.000 0.160 5 13830026 missense variant C/T snv 2.0E-05 5.6E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 1990 2013