DOCK6, dedicator of cytokinesis 6, 57572

N. diseases: 84; N. variants: 27
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: rs737337
rs737337 		0.925 0.040 19 11236817 synonymous variant T/C snv 0.15 0.20
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 6 2010 2019
dbSNP: rs2278426
rs2278426 		1.000 0.080 19 11239812 missense variant C/T snv 0.11 0.11
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 3 2013 2019
dbSNP: rs12979813
rs12979813 		19 11232027 intron variant A/G snv 0.30
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 2 2013 2019
dbSNP: rs1280482569
rs1280482569 		1.000 19 11211990 splice donor variant ACC/- delins 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2013 2017
dbSNP: rs568049240
rs568049240 		1.000 19 11213187 stop gained C/A;T snv 7.3E-05; 4.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2013 2017
dbSNP: rs2278426
rs2278426 		1.000 0.080 19 11239812 missense variant C/T snv 0.11 0.11
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 3 2018 2019
dbSNP: rs2278426
rs2278426 		1.000 0.080 19 11239812 missense variant C/T snv 0.11 0.11
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2019
dbSNP: rs372751467
rs372751467 		1.000 0.120 19 11217380 stop gained G/A snv 2.8E-05 1.4E-05
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 2 2015 2018
dbSNP: rs4804155
rs4804155 		19 11223619 intron variant C/G snv 0.18
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 2 2017 2019
dbSNP: rs737337
rs737337 		0.925 0.040 19 11236817 synonymous variant T/C snv 0.15 0.20
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 2 2010 2013
dbSNP: rs737337
rs737337 		0.925 0.040 19 11236817 synonymous variant T/C snv 0.15 0.20
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 2 2018 2019
dbSNP: rs10406522
rs10406522 		1.000 0.080 19 11230959 intron variant T/C snv 0.30
CUI: C0155567
Disease: Rheumatic aortic stenosis
Rheumatic aortic stenosis 		Infections; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs12979813
rs12979813 		19 11232027 intron variant A/G snv 0.30
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2019 2019
dbSNP: rs12979813
rs12979813 		19 11232027 intron variant A/G snv 0.30
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2019 2019
dbSNP: rs12979813
rs12979813 		19 11232027 intron variant A/G snv 0.30
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2013 2013
dbSNP: rs145464906
rs145464906 		1.000 0.080 19 11240198 stop gained C/G;T snv 6.3E-04
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2014 2014
dbSNP: rs17699089
rs17699089 		19 11233119 intron variant A/G snv 0.15
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2019 2019
dbSNP: rs17766692
rs17766692 		19 11231923 intron variant C/T snv 0.13
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1865063
rs1865063 		19 11230353 intron variant C/A;T snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2017 2017
dbSNP: rs200472954
rs200472954 		1.000 19 11213198 missense variant C/T snv 1.7E-04 1.5E-04
CUI: C3280182
Disease: ADAMS-OLIVER SYNDROME 2
ADAMS-OLIVER SYNDROME 2 		0.700 1.000 1 2011 2011
dbSNP: rs2278426
rs2278426 		1.000 0.080 19 11239812 missense variant C/T snv 0.11 0.11
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2278426
rs2278426 		1.000 0.080 19 11239812 missense variant C/T snv 0.11 0.11
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2013 2013
dbSNP: rs2278426
rs2278426 		1.000 0.080 19 11239812 missense variant C/T snv 0.11 0.11
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs3760782
rs3760782 		19 11235874 intron variant C/A;G;T snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2017 2017
dbSNP: rs4804155
rs4804155 		19 11223619 intron variant C/G snv 0.18
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2019 2019