Disease: Optic Atrophy, Hereditary, Leber
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs267606898
CYTB ; ND5
0.851 0.240 MT 13042 missense variant G/A snv 4
rs199476122
ND1 ; ND2
0.882 0.280 MT 3697 missense variant G/A snv 3
rs267606895
CYTB ; ND5
0.882 0.240 MT 13045 missense variant A/C snv 3
rs776254971
NDUFS7
0.925 0.240 19 1388873 missense variant A/G snv 4.2E-06 2