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 9 133354661 frameshift variant GGCTGGCAGA/AT delins 0.700 1.000 5 1998 2015
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
12 0.882 0.120 9 133354661 frameshift variant GGCTGGCAGA/AT delins 0.700 0
SURF1-related Charcot-Marie-Tooth disease type 4
CUI: C4225246
Disease: SURF1-related Charcot-Marie-Tooth disease type 4
5 0.882 0.120 9 133354661 frameshift variant GGCTGGCAGA/AT delins 0.700 0