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: rs118203955
rs118203955
1.000 6 107210483 stop gained G/A;C snv 4.0E-06; 8.0E-06
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3
0.700 1.000 1 2007 2007
dbSNP: rs118203956
rs118203956
1.000 6 107154674 missense variant G/A snv 3.2E-05 2.1E-05
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3
0.700 1.000 1 2007 2007
dbSNP: rs59490629
rs59490629
1.000 0.080 6 107256268 intron variant G/A snv 8.5E-02
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs59490629
rs59490629
1.000 0.080 6 107256268 intron variant G/A snv 8.5E-02
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery
Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs61315837
rs61315837
6 107221343 intron variant A/G snv 3.3E-02
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs7772518
rs7772518
6 107258176 intron variant A/G snv 1.6E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2012 2012
dbSNP: rs9486594
rs9486594
1.000 0.040 6 107351323 intron variant T/A;C snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs782439454
rs782439454
1.000 6 107154628 frameshift variant CT/- delins 1.2E-05 7.0E-06
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3
0.700 0