Disease: Optic Atrophy 1
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs143319805
OPA1
0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 12
rs80356529
OPA1
0.827 0.240 3 193643996 missense variant G/A;C snv 9
rs80356530
OPA1 ; LOC102724808
0.882 0.320 3 193667168 splice region variant TTAG/- delins 4
rs398124298
LOC102724808 ; OPA1
0.925 0.160 3 193647110 missense variant C/A;G snv 3