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: 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: 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: 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: rs2285947
rs2285947 		0.807 0.120 7 21544470 intron variant G/A snv 0.44
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		Neoplasms 0.010 < 0.001 1 2015 2015
dbSNP: rs2285947
rs2285947 		0.807 0.120 7 21544470 intron variant G/A snv 0.44
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs2285947
rs2285947 		0.807 0.120 7 21544470 intron variant G/A snv 0.44
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.800 1.000 1 2012 2012
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: rs2285947
rs2285947 		0.807 0.120 7 21544470 intron variant G/A snv 0.44
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs2285947
rs2285947 		0.807 0.120 7 21544470 intron variant G/A snv 0.44
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		Neoplasms 0.010 < 0.001 1 2015 2015
dbSNP: rs2285947
rs2285947 		0.807 0.120 7 21544470 intron variant G/A snv 0.44
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1554309352
rs1554309352 		7 21558852 stop gained T/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: 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: 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: rs12670798
rs12670798 		1.000 0.040 7 21567734 intron variant T/C snv 0.26
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 5 2009 2019
dbSNP: rs12670798
rs12670798 		1.000 0.040 7 21567734 intron variant T/C snv 0.26
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 5 2009 2018
dbSNP: rs12670798
rs12670798 		1.000 0.040 7 21567734 intron variant T/C snv 0.26
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 3 2009 2013
dbSNP: rs12670798
rs12670798 		1.000 0.040 7 21567734 intron variant T/C snv 0.26
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs12670798
rs12670798 		1.000 0.040 7 21567734 intron variant T/C snv 0.26
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
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: 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: 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: rs1554312483
rs1554312483 		7 21571974 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: 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