Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137852667
IGHMBP2
0.882 0.120 11 68935404 missense variant G/A snv 4.4E-05 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
rs372000714
IGHMBP2
0.882 0.120 11 68906120 stop gained T/A snv 1.6E-05 7.0E-06 3
rs387906738
DYNC1H1
0.882 0.080 14 101980506 missense variant A/G snv 3
rs57318642
LMNA
0.851 0.200 1 156137203 missense variant C/T snv 1.4E-05 1.4E-05 3
rs58982919
NEFL
0.790 0.080 8 24956223 missense variant T/C snv 3
rs797044802
IGHMBP2
0.882 0.120 11 68908338 splice donor variant G/A;T snv 4.0E-06 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
rs113994102
CTDP1
0.925 0.160 18 79710825 intron variant C/T snv 2
rs119483085
NDRG1
0.851 0.160 8 133258374 stop gained G/A snv 7.0E-06 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
rs1553259703
MPZ
0.925 0.080 1 161306900 stop gained G/A snv 2
rs207482230
TFG
0.882 0.080 3 100748182 missense variant C/T snv 4.0E-06 2
rs281865128
MPZ
0.882 0.080 1 161306426 missense variant C/G;T snv 2
rs29001571
HSPB1
0.851 0.080 7 76303816 missense variant C/A;T snv 8.0E-06 2
rs397515442
GDAP1
0.882 0.080 8 74360194 missense variant A/G snv 2
rs62636503
NEFL ; MIR6841
0.882 0.080 8 24953779 missense variant C/T snv 2