rs28939711, CUTC;COX15

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
12 0.851 0.120 10 99724057 missense variant G/A snv 3.2E-05 3.5E-05 0.700 0
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2
CUI: C3554534
Disease: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2
2 0.851 0.120 10 99724057 missense variant G/A snv 3.2E-05 3.5E-05 0.800 1.000 2 2003 2011
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.851 0.120 10 99724057 missense variant G/A snv 3.2E-05 3.5E-05 0.710 1.000 3 2004 2016
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
CUI: C2748884
Disease: CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
3 0.851 0.120 10 99724057 missense variant G/A snv 3.2E-05 3.5E-05 0.010 1.000 1 2016 2016
nervous system disorder
CUI: C0027765
Disease: nervous system disorder
39 0.851 0.120 10 99724057 missense variant G/A snv 3.2E-05 3.5E-05 0.010 1.000 1 2016 2016