Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80338933
SH3TC2
0.807 0.080 5 149026872 stop gained G/A snv 7.5E-04; 4.0E-06 6.6E-04 8
rs104894077
GDAP1
0.790 0.080 8 74361886 stop gained C/T snv 7.6E-05 1.5E-04 6
rs119103268
MFN2
0.827 0.080 1 11992689 missense variant C/T snv 5
rs267607143
TRPV4
0.851 0.080 12 109798823 missense variant G/A snv 7.0E-06 5
rs267607146
TRPV4
0.851 0.080 12 109800666 missense variant G/A;T snv 7.0E-06 5
rs104894078
GDAP1
0.851 0.080 8 74360184 missense variant C/T snv 7.0E-06 4
rs104894161
EGR2
0.807 0.080 10 62813563 missense variant G/A snv 4
rs104894621
PMP22
0.790 0.080 17 15239575 missense variant G/A snv 4
rs267607145
TRPV4
0.882 0.080 12 109798820 missense variant G/A;T snv 4
rs104894075
GDAP1
0.851 0.080 8 74362940 stop gained C/G snv 4.0E-06 2.1E-05 3
rs104894345
LOC107984440 ; HSPB8
0.827 0.080 12 119187080 missense variant G/C;T snv 3
rs145770066
MIR6800 ; MED25
0.882 0.080 19 49830790 missense variant C/T snv 3.8E-03 4.3E-03 3
rs267606621
AARS1
0.882 0.080 16 70268356 missense variant C/T snv 3
rs28940294
MFN2
0.882 0.080 1 12001423 missense variant G/A snv 4.0E-06 3
rs387906738
DYNC1H1
0.882 0.080 14 101980506 missense variant A/G snv 3
rs58982919
NEFL
0.790 0.080 8 24956223 missense variant T/C snv 3
rs104894158
EGR2
0.851 0.080 10 62813835 missense variant A/T snv 2
rs104894159
EGR2
0.827 0.080 10 62813413 missense variant G/A snv 2
rs104894351
HSPB8 ; LOC107984440
0.827 0.080 12 119187078 missense variant A/C;G snv 2
rs104894617
PMP22
0.851 0.080 17 15260681 missense variant A/G snv 2
rs104894707
PRX
0.882 0.080 19 40396207 stop gained A/T snv 8.0E-06 5.6E-05 2
rs104894826
GJB1
0.882 0.080 X 71224114 missense variant T/C snv 2
rs121908160
KIF1B
0.882 0.080 1 10258602 missense variant A/T snv 2
rs121913599
MPZ
0.882 0.080 1 161306763 missense variant G/T snv 2
rs1553259643
MPZ
0.925 0.080 1 161306719 frameshift variant TACA/- delins 2