Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs786200930
LRSAM1
0.925 0.080 9 127502846 frameshift variant -/GC delins 2
rs756461496
GDAP1
0.925 0.080 8 74364305 frameshift variant -/T delins 4.0E-06 2.1E-05 2
rs886041386
GDAP1
1.000 0.080 8 74361900 frameshift variant A/- del 4.0E-06 2.8E-05 1
rs104894351
HSPB8 ; LOC107984440
0.827 0.080 12 119187078 missense variant A/C;G snv 7
rs572010627
MPZ
0.851 0.160 1 161306738 missense variant A/C;T snv 8.0E-06 4
rs1553259662
MPZ
0.827 0.200 1 161306821 missense variant A/G snv 7
rs104894617
PMP22
0.851 0.080 17 15260681 missense variant A/G snv 4
rs397515442
GDAP1
0.882 0.080 8 74360194 missense variant A/G snv 4
rs121909088
DNM2
0.925 0.080 19 10819992 missense variant A/G snv 3
rs1476856429
GDAP1
0.882 0.080 8 74364057 missense variant A/G snv 1.2E-05 7.0E-06 3
rs387906738
DYNC1H1
0.882 0.080 14 101980506 missense variant A/G snv 3
rs104894822
GJB1
0.925 0.080 X 71224321 missense variant A/G snv 2
rs2236057
MFN2
0.925 0.120 1 12002148 intron variant A/G snv 0.65 0.65 2
rs62636505
NEFL
0.925 0.080 8 24956235 missense variant A/G snv 2
rs730882140
DNAJB2
0.925 0.080 2 219279847 missense variant A/G snv 2
rs199927590
DNM2
1.000 0.080 19 10797424 missense variant A/G snv 1.1E-04 1.0E-04 1
rs104894158
EGR2
0.851 0.080 10 62813835 missense variant A/T snv 5
rs104894707
PRX
0.882 0.080 19 40396207 stop gained A/T snv 8.0E-06 5.6E-05 4
rs121908160
KIF1B
0.882 0.080 1 10258602 missense variant A/T snv 4
rs879253869
PMP2
0.925 0.080 8 81444935 missense variant A/T snv 3
rs724159994
IGHMBP2
0.882 0.120 11 68939658 frameshift variant AG/- delins 3
rs864622664
SH3TC2
0.925 0.080 5 149010294 frameshift variant C/- delins 7.0E-06 2
rs1482355069
PMP22
1.000 0.080 17 15259155 frameshift variant C/- delins 7.0E-06 1
rs786205112
PMP22
1.000 0.080 17 15239509 frameshift variant C/-;CC delins 1
rs781249411
MARS1
0.925 0.080 12 57515926 missense variant C/A snv 3.6E-05 2