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.
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
27 0.925 0.080 15 89317469 missense variant C/T snv 8.0E-06 1.4E-05 0.700 1.000 14 2001 2006
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
128 0.925 0.080 15 89317469 missense variant C/T snv 8.0E-06 1.4E-05 0.700 1.000 4 2006 2010
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 0.925 0.080 15 89317469 missense variant C/T snv 8.0E-06 1.4E-05 0.700 1.000 1 2017 2017