Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918544 0.827 0.200 14 24240635 missense variant C/T snv 7
rs1554555063 0.882 0.160 8 93791324 splice region variant G/A snv 7
rs1564617866 0.925 0.200 10 78000983 missense variant T/G snv 7
rs74315402 0.882 0.200 20 4699570 missense variant C/T snv 7
rs1114167423 0.882 0.240 9 32984704 stop gained T/A snv 6
rs137852763 0.851 0.320 11 94476318 missense variant C/G snv 6
rs1554943158 0.882 0.040 11 681045 inframe deletion CTT/- delins 6
rs1555661648 0.882 0.240 18 26862297 missense variant C/G snv 6
rs1555889162 0.882 0.040 20 49374931 missense variant G/A;C snv 6
rs1561515242 1.000 0.080 5 111482938 splice donor variant G/A snv 6
rs886041761 0.925 0.200 1 110603902 missense variant C/T snv 6
rs1057518821 1.000 1 42930671 frameshift variant -/C delins 5
rs1057518965
ATM
0.882 0.320 11 108244812 frameshift variant A/- delins 5
rs121908230 0.882 0.080 19 13262789 missense variant C/T snv 5
rs267606695
CA8
1.000 0.160 8 60266044 missense variant A/C;G snv 5
rs58332872 0.882 0.080 8 24956248 missense variant C/T snv 5
rs587777343 0.925 0.120 16 682232 missense variant C/T snv 5
rs879253797 0.882 0.160 16 89556954 missense variant C/T snv 1.4E-05 5
rs104894699 0.925 0.120 19 50323694 missense variant C/T snv 4
rs1057518011 1 1535766 missense variant C/T snv 4
rs121908214 0.925 0.080 19 13230185 missense variant T/G snv 4
rs121918514 0.925 0.080 19 53889705 missense variant G/A snv 4
rs1269252748 9 2641436 missense variant C/T snv 4
rs1335702493 0.925 0.200 9 32973507 stop gained C/A;T snv 4
rs142157346
FXN
0.882 0.160 9 69053240 missense variant G/T snv 4