rs121918657, SURF1

N. diseases: 2
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 0.925 0.120 9 133352446 stop gained G/A snv 1.2E-05 0.700 1.000 3 1998 2013
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
12 0.925 0.120 9 133352446 stop gained G/A snv 1.2E-05 0.700 0