rs121918658, 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 133352074 missense variant A/C snv 0.700 1.000 7 1998 2012
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 133352074 missense variant A/C snv 0.700 0