Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113994102
CTDP1
0.925 0.160 18 79710825 intron variant C/T snv 2
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
rs104894075
GDAP1
0.851 0.080 8 74362940 stop gained C/G snv 4.0E-06 2.1E-05 3
rs372000714
IGHMBP2
0.882 0.120 11 68906120 stop gained T/A snv 1.6E-05 7.0E-06 3
rs104894707
PRX
0.882 0.080 19 40396207 stop gained A/T snv 8.0E-06 5.6E-05 2
rs119483085
NDRG1
0.851 0.160 8 133258374 stop gained G/A snv 7.0E-06 2
rs1553259703
MPZ
0.925 0.080 1 161306900 stop gained G/A snv 2
rs80338934
SH3TC2
0.882 0.080 5 149010272 stop gained G/A snv 4.0E-05 3.5E-05 2
rs104894706
PRX
0.925 0.080 19 40397766 stop gained G/A;C;T snv 1
rs104894814
GJB1
0.925 0.080 X 71224365 stop gained C/G;T snv 1
rs1057515421
LMNA
0.925 0.120 1 156136284 stop gained C/T snv 1
rs1060503021
HSPB1
0.925 0.080 7 76304077 stop gained GC/CT mnv 1
rs749850181
SH3TC2
1.000 0.080 5 149028348 stop gained C/A snv 1.2E-05 1
rs797044846
PMP22
0.925 0.160 17 15259155 stop gained C/G;T snv 1
rs863225023
HSPB1
0.925 0.080 7 76304078 stop gained C/T snv 4.0E-06 1.4E-05 1
rs267607144
TRPV4
0.716 0.360 12 109800665 missense variant C/T snv 17
rs121913595
MPZ
0.742 0.160 1 161306785 missense variant G/A;T snv 10
rs104894080
GDAP1
0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05 8
rs121913603
MPZ
0.732 0.160 1 161306722 missense variant T/C;G snv 2.0E-05 8
rs121918054
POLG
0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06 7
rs104894621
PMP22
0.790 0.080 17 15239575 missense variant G/A snv 6
rs119103268
MFN2
0.827 0.080 1 11992689 missense variant C/T snv 5
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 5
rs267607143
TRPV4
0.851 0.080 12 109798823 missense variant G/A snv 7.0E-06 5