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: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility 		0.700 0
dbSNP: rs201943194
rs201943194 		0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility 		0.700 0
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C4025885
Disease: Abnormality of the uvula
Abnormality of the uvula 		0.700 0
dbSNP: rs201943194
rs201943194 		0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C4025885
Disease: Abnormality of the uvula
Abnormality of the uvula 		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: rs201943194
rs201943194 		0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
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: C0702166
Disease: Acne
Acne 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs201943194
rs201943194 		0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C0702166
Disease: Acne
Acne 		Skin and Connective Tissue Diseases 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: rs201943194
rs201943194 		0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C0149514
Disease: Acute bronchitis
Acute bronchitis 		Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases 0.700 0
dbSNP: rs66476925
rs66476925 		7 21571781 intron variant G/A;C;T snv 4.4E-06; 0.17; 4.4E-06
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs201943194
rs201943194 		0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System 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: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 0
dbSNP: rs201943194
rs201943194 		0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 0
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C0004099
Disease: Asthma, Exercise-Induced
Asthma, Exercise-Induced 		Respiratory Tract Diseases; Immune System Diseases 0.700 0
dbSNP: rs201943194
rs201943194 		0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C0004099
Disease: Asthma, Exercise-Induced
Asthma, Exercise-Induced 		Respiratory Tract Diseases; Immune System 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: rs201943194
rs201943194 		0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C0004144
Disease: Atelectasis
Atelectasis 		Respiratory Tract Diseases 0.700 0
dbSNP: rs7800783
rs7800783 		7 21731847 intron variant G/A snv 5.9E-02
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		0.700 1.000 1 2010 2010
dbSNP: rs7971
rs7971 		0.925 0.200 7 21901342 3 prime UTR variant A/G snv 0.28
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
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: rs201943194
rs201943194 		0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
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: rs2285947
rs2285947 		0.807 0.120 7 21544470 intron variant G/A snv 0.44
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C0008031
Disease: Chest Pain
Chest Pain 		Pathological Conditions, Signs and Symptoms 0.700 0