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 0.851 0.360 2 218661153 stop gained C/T snv 1.7E-04 2.9E-04 0.700 1.000 4 2002 2012
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.851 0.360 2 218661153 stop gained C/T snv 1.7E-04 2.9E-04 0.700 0
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
13 0.851 0.360 2 218661153 stop gained C/T snv 1.7E-04 2.9E-04 0.700 0
Pili torti-deafness syndrome
CUI: C0266006
Disease: Pili torti-deafness syndrome
10 0.851 0.360 2 218661153 stop gained C/T snv 1.7E-04 2.9E-04 0.700 0