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: rs4487645
rs4487645
0.882 0.200 7 21898622 intron variant C/A;T snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.810 1.000 4 2011 2014
dbSNP: rs12670798
rs12670798
1.000 0.040 7 21567734 intron variant T/C snv 0.26
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: 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: 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: 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: 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: 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: rs368260932
rs368260932
1.000 0.160 7 21749702 stop gained C/T snv 4.4E-05 7.7E-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 3 2012 2015
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: 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: rs12537531
rs12537531
1.000 0.160 7 21892426 missense variant C/G;T snv 1.8E-04; 0.39
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: 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: rs2390595
rs2390595
1.000 0.160 7 21875846 intron variant G/A;T snv
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: 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: rs4636103
rs4636103
1.000 0.160 7 21898370 intron variant C/G;T snv 0.33
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: 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: rs6461614
rs6461614
1.000 0.160 7 21888909 intron variant T/C snv 0.54
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: rs66476925
rs66476925
7 21571781 intron variant G/A;C;T snv 4.4E-06; 0.17; 4.4E-06
Low density lipoprotein cholesterol measurement
0.700 1.000 2 2019 2019
dbSNP: rs6949101
rs6949101
1.000 0.160 7 21890138 intron variant T/C 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: 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: 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