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: rs10485986
rs10485986
1.000 0.160 7 21867059 intron variant C/T snv 0.32
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs10499535
rs10499535
7 21650988 intron variant A/G snv 0.38
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
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: rs1128226
rs1128226
1.000 0.160 7 21902051 3 prime UTR variant A/C snv 0.34
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 2 2011 2013
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: rs1175443221
rs1175443221
7 21862024 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 1.000 3 2008 2012
dbSNP: rs11761264
rs11761264
1.000 0.160 7 21872858 intron variant G/A snv 0.31
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs11763022
rs11763022
1.000 0.160 7 21880428 intron variant G/A snv 0.27
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs11763025
rs11763025
1.000 0.160 7 21880547 intron variant C/T snv 0.27
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs11763665
rs11763665
1.000 0.160 7 21886368 intron variant C/A snv 0.31
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs11763709
rs11763709
1.000 0.160 7 21886360 intron variant G/C;T snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs11766053
rs11766053
1.000 0.160 7 21870954 intron variant A/G snv 0.32
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs11769521
rs11769521
1.000 0.160 7 21885487 intron variant A/T snv 0.31
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs11770434
rs11770434
1.000 0.160 7 21886238 intron variant A/T snv 0.48
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2011 2011
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