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.
GRACILE SYNDROME (disorder)
CUI: C1864002
Disease: GRACILE SYNDROME (disorder)
27 0.882 0.280 2 218661283 missense variant C/T snv 0.710 1.000 4 2001 2014
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
13 0.882 0.280 2 218661283 missense variant C/T snv 0.700 1.000 7 2001 2013
Leigh Syndrome due to Mitochondrial Complex III Deficiency
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
1 0.882 0.280 2 218661283 missense variant C/T snv 0.700 0
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 0.882 0.280 2 218661283 missense variant C/T snv 0.010 1.000 1 2013 2013