DNAH11, dynein axonemal heavy chain 11, 8701

N. diseases: 110; N. variants: 109
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: rs1060503041
rs1060503041 		7 21748743 splice donor variant G/A snv
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: rs1060503063
rs1060503063 		7 21842641 stop gained C/T snv 1.4E-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: rs1060503064
rs1060503064 		7 21854418 missense variant T/C snv
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: rs1164659091
rs1164659091 		7 21681585 stop gained G/T snv
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: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C0043094
Disease: Weight Gain
Weight Gain 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		0.700 0
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C0035455
Disease: Rhinitis
Rhinitis 		Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C0149516
Disease: Chronic sinusitis
Chronic sinusitis 		Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C0581354
Disease: Recurrent sinusitis
Recurrent sinusitis 		Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C0004144
Disease: Atelectasis
Atelectasis 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C0700292
Disease: Hypoxemia
Hypoxemia 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C0235063
Disease: Respiratory Depression
Respiratory Depression 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C0010200
Disease: Coughing
Coughing 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases 0.700 0
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C0013404
Disease: Dyspnea
Dyspnea 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases 0.700 0
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C0032227
Disease: Pleural effusion disorder
Pleural effusion disorder 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C0032231
Disease: Pleurisy
Pleurisy 		Infections; Respiratory Tract Diseases 0.700 0
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C0014591
Disease: Epistaxis
Epistaxis 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C0018681
Disease: Headache
Headache 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C0149514
Disease: Acute bronchitis
Acute bronchitis 		Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases 0.700 0
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		Infections; Respiratory Tract Diseases 0.700 0
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C0476254
Disease: Dyslexia
Dyslexia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C0746102
Disease: Chronic lung disease
Chronic lung disease 		Respiratory Tract Diseases 0.700 0