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: 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: 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: 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: 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: 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: 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: 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: 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: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C4025885
Disease: Abnormality of the uvula
Abnormality of the uvula 		0.700 0
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C4025860
Disease: Hearing abnormality
Hearing abnormality 		0.700 0
dbSNP: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility 		0.700 0
dbSNP: rs121908854
rs121908854 		1.000 7 21748602 stop gained C/A;G;T snv 1.2E-03; 4.7E-06
CUI: C4693994
Disease: CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS
CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS 		0.700 0
dbSNP: rs201943194
rs201943194 		0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility 		0.700 0
dbSNP: rs201943194
rs201943194 		0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0