rs397514662, CUTC;COX15

N. diseases: 4
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 Disease
CUI: C0023264
Disease: Leigh Disease
114 0.882 0.120 10 99716419 missense variant A/C;G snv 1.2E-05 0.710 1.000 3 2004 2016
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
12 0.882 0.120 10 99716419 missense variant A/C;G snv 1.2E-05 0.700 0
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
3 0.882 0.120 10 99716419 missense variant A/C;G snv 1.2E-05 0.010 1.000 1 2016 2016
nervous system disorder
CUI: C0027765
Disease: nervous system disorder
39 0.882 0.120 10 99716419 missense variant A/C;G snv 1.2E-05 0.010 1.000 1 2016 2016