Source: CURATED

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: rs387906424
rs387906424
CYTB ; ND5 ; ND6
0.925 0.200 MT 14596 missense variant A/T snv
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA 		0.800 1.000 2 1994 1996
dbSNP: rs387906424
rs387906424
CYTB ; ND5 ; ND6
0.925 0.200 MT 14596 missense variant A/T snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 0