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: 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: rs1554281038
rs1554281038 		7 21787584 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: rs886039340
rs886039340 		7 21687528 splice donor variant G/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 1.000 3 2008 2012
dbSNP: rs200693106
rs200693106 		7 21702773 stop gained C/A;T snv 3.6E-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 2 2012 2015
dbSNP: rs55649657
rs55649657 		7 21567665 intron variant C/G snv 0.16
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 2 2015 2018
dbSNP: rs66476925
rs66476925 		7 21571781 intron variant G/A;C;T snv 4.4E-06; 0.17; 4.4E-06
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2019 2019
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: rs2030672
rs2030672 		7 21648307 intron variant G/C snv 0.50
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs2285942
rs2285942 		7 21543299 synonymous variant C/T snv 0.10 9.9E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
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: rs532007878
rs532007878 		7 21616294 splice donor variant C/A;T snv 1.3E-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 1 2012 2012
dbSNP: rs56130071
rs56130071 		7 21559135 intron variant G/C snv 0.18
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs56130071
rs56130071 		7 21559135 intron variant G/C snv 0.18
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2015 2015
dbSNP: rs66476925
rs66476925 		7 21571781 intron variant G/A;C;T snv 4.4E-06; 0.17; 4.4E-06
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
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: rs72657316
rs72657316 		7 21619178 stop gained C/T snv 2.8E-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 1 2012 2012
dbSNP: rs72657321
rs72657321 		7 21620016 stop gained C/T snv 1.2E-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 1 2012 2012
dbSNP: rs72657393
rs72657393 		7 21808041 stop gained C/T snv 7.0E-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 1 2012 2012
dbSNP: rs73066485
rs73066485 		7 21572352 intron variant T/A;G snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs757784023
rs757784023 		7 21900000 stop gained C/A;T snv 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 1 2016 2016
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: rs7800783
rs7800783 		7 21731847 intron variant G/A snv 5.9E-02
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		0.700 1.000 1 2010 2010
dbSNP: rs976517
rs976517 		7 21541989 upstream gene variant C/G snv 0.42
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 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