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.
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 0.925 0.080 3 193666331 missense variant A/G snv 1.2E-05 0.010 1.000 1 2019 2019
POLG mutation
CUI: C3888962
Disease: POLG mutation
7 0.925 0.080 3 193666331 missense variant A/G snv 1.2E-05 0.010 1.000 1 2019 2019