Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs267607146
TRPV4
0.851 0.080 12 109800666 missense variant G/A;T snv 7.0E-06 5
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
rs104894075
GDAP1
0.851 0.080 8 74362940 stop gained C/G snv 4.0E-06 2.1E-05 3
rs104894623
PMP22
0.851 0.200 17 15239591 missense variant C/G;T snv 3
rs57318642
LMNA
0.851 0.200 1 156137203 missense variant C/T snv 1.4E-05 1.4E-05 3
rs104894158
EGR2
0.851 0.080 10 62813835 missense variant A/T snv 2
rs104894617
PMP22
0.851 0.080 17 15260681 missense variant A/G snv 2
rs119483085
NDRG1
0.851 0.160 8 133258374 stop gained G/A snv 7.0E-06 2
rs29001571
HSPB1
0.851 0.080 7 76303816 missense variant C/A;T snv 8.0E-06 2
rs121913602
MPZ
0.851 0.120 1 161307308 missense variant T/A snv 1
rs281865137
EGR2
0.851 0.080 10 62813496 missense variant C/T snv 1
rs397515323
PDK3
0.851 0.080 X 24503479 missense variant G/A snv 1
rs572010627
MPZ
0.851 0.160 1 161306738 missense variant A/C;T snv 8.0E-06 1
rs199476138
ND3 ; COX3 ; ND4 ; ND4L ; ATP6
0.882 0.120 MT 9185 missense variant T/C snv 4
rs267607145
TRPV4
0.882 0.080 12 109798820 missense variant G/A;T snv 4
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
rs724159994
IGHMBP2
0.882 0.120 11 68939658 frameshift variant AG/- delins 3
rs797044802
IGHMBP2
0.882 0.120 11 68908338 splice donor variant G/A;T snv 4.0E-06 3
rs104894707
PRX
0.882 0.080 19 40396207 stop gained A/T snv 8.0E-06 5.6E-05 2