Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs29001571
HSPB1
0.851 0.080 7 76303816 missense variant C/A;T snv 8.0E-06 2
rs879253954
PMP22
0.882 0.160 17 15230951 missense variant C/A;T snv 2
rs142000963
LMNA
0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 1
rs104894075
GDAP1
0.851 0.080 8 74362940 stop gained C/G snv 4.0E-06 2.1E-05 3
rs121908113
GDAP1
0.925 0.080 8 74363011 missense variant C/G snv 1
rs1555937009
GJB1
1.000 0.080 X 71223757 missense variant C/G snv 1
rs121918054
POLG
0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06 7
rs104894623
PMP22
0.851 0.200 17 15239591 missense variant C/G;T snv 3
rs281865128
MPZ
0.882 0.080 1 161306426 missense variant C/G;T snv 2
rs104894814
GJB1
0.925 0.080 X 71224365 stop gained C/G;T snv 1
rs797044846
PMP22
0.925 0.160 17 15259155 stop gained C/G;T snv 1
rs267607144
TRPV4
0.716 0.360 12 109800665 missense variant C/T snv 17
rs104894080
GDAP1
0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05 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
rs104894078
GDAP1
0.851 0.080 8 74360184 missense variant C/T snv 7.0E-06 4
rs119103267
MFN2
0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04 4
rs59885338
LMNA
0.851 0.120 1 156135268 missense variant C/T snv 3.6E-05 2.8E-05 4
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
rs57318642
LMNA
0.851 0.200 1 156137203 missense variant C/T snv 1.4E-05 1.4E-05 3
rs113994102
CTDP1
0.925 0.160 18 79710825 intron variant C/T snv 2
rs207482230
TFG
0.882 0.080 3 100748182 missense variant C/T snv 4.0E-06 2
rs62636503
NEFL ; MIR6841
0.882 0.080 8 24953779 missense variant C/T snv 2
rs690016543
SBF1
0.925 0.080 22 50465006 missense variant C/T snv 2