Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs888630930
rs888630930
FDX2 ; ZGLP1
19 10310616 missense variant G/A snv
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.800 1.000 2 2014 2018
dbSNP: rs587777600
rs587777600
FDX2 ; RAVER1
19 10315996 missense variant T/A;G snv
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.700 1.000 2 2014 2018