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: rs771781357
rs771781357 		7 21773945 frameshift variant -/A delins 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: rs1562590250
rs1562590250 		7 21861937 frameshift variant -/GC 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: rs35803309
rs35803309 		7 21683510 intron variant -/T delins 0.13
CUI: C3812686
Disease: Interleukin 1 Receptor Antagonist Measurement
Interleukin 1 Receptor Antagonist Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs797045086
rs797045086 		1.000 0.160 7 21735706 stop gained -/TTG delins
CUI: C2678473
Disease: CILIARY DYSKINESIA, PRIMARY, 7 (disorder)
CILIARY DYSKINESIA, PRIMARY, 7 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1562684798
rs1562684798 		7 21591469 frameshift variant A/- 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: 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: rs75341503
rs75341503 		1.000 0.160 7 21897080 intron variant A/C snv 0.26
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: rs886313
rs886313 		1.000 0.160 7 21869463 intron variant A/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: rs35469450
rs35469450 		1.000 0.160 7 21899764 intron variant A/G snv 0.22
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: rs7971
rs7971 		0.925 0.200 7 21901342 3 prime UTR variant A/G snv 0.28
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: 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: 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: rs12700325
rs12700325 		1.000 0.160 7 21901821 3 prime UTR variant A/G snv 0.20
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: 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: rs1554291973
rs1554291973 		7 21880700 splice acceptor variant A/G 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: rs769637393
rs769637393 		7 21571866 stop gained A/G;T snv 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 0
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: rs12533111
rs12533111 		1.000 0.160 7 21893355 intron variant A/T snv 0.44
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: rs1554282583
rs1554282583 		7 21801158 stop gained A/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: rs72655968
rs72655968 		1.000 0.160 7 21543595 missense variant A/T snv
CUI: C2678473
Disease: CILIARY DYSKINESIA, PRIMARY, 7 (disorder)
CILIARY DYSKINESIA, PRIMARY, 7 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs878854445
rs878854445 		7 21720729 frameshift variant AT/- 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: rs1554292398
rs1554292398 		7 21884369 frameshift variant C/- 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: rs57104699
rs57104699 		0.882 0.160 7 21888461 intron variant C/A snv 0.26
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.800 1.000 2 2011 2015
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