Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs80338933
SH3TC2
0.807 0.080 5 149026872 stop gained G/A snv 7.5E-04; 4.0E-06 6.6E-04 8
rs121918054
POLG
0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06 7
rs104894077
GDAP1
0.790 0.080 8 74361886 stop gained C/T snv 7.6E-05 1.5E-04 6
rs104894621
PMP22
0.790 0.080 17 15239575 missense variant G/A snv 6
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 5
rs60864230
LMNA
0.790 0.280 1 156130658 missense variant G/A;C;T snv 4.0E-06 5
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
rs121918312
BAG3
0.776 0.160 10 119672373 missense variant C/A;T snv 4
rs104894161
EGR2
0.807 0.080 10 62813563 missense variant G/A snv 4
rs104894078
GDAP1
0.851 0.080 8 74360184 missense variant C/T snv 7.0E-06 4
rs59885338
LMNA
0.851 0.120 1 156135268 missense variant C/T snv 3.6E-05 2.8E-05 4
rs119103267
MFN2
0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04 4
rs28940291
MFN2
0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06 4
rs121913597
MPZ
0.827 0.160 1 161307268 missense variant T/A snv 4
rs199476138
ND3 ; COX3 ; ND4 ; ND4L ; ATP6
0.882 0.120 MT 9185 missense variant T/C snv 4
rs58982919
NEFL
0.790 0.080 8 24956223 missense variant T/C snv 4
rs104894619
PMP22
0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 4
rs267607145
TRPV4
0.882 0.080 12 109798820 missense variant G/A;T snv 4
rs267606621
AARS1
0.882 0.080 16 70268356 missense variant C/T snv 3