Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs375817528
CAPN1
0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 25
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 13
rs143319805
OPA1
0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 12
rs431905511
SNCA
0.827 0.080 4 89828154 missense variant C/T snv 9
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 9
rs201650281
KARS1
0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04 8
rs772410450
KARS1
0.882 0.200 16 75635688 missense variant A/C snv 4.0E-06 1.4E-05 5
rs781934508
SURF1
1.000 0.080 9 133352441 splice region variant C/A;T snv 2.4E-05 4
rs201920319
THG1L
0.925 5 157731604 missense variant T/C snv 2.1E-04 1.2E-04 4
rs747176196
MFN2
1.000 1 11989329 missense variant C/T snv 4.0E-06; 1.6E-05 3