Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs57318642
LMNA
0.851 0.200 1 156137203 missense variant C/T snv 1.4E-05 1.4E-05 3
rs104894345
LOC107984440 ; HSPB8
0.827 0.080 12 119187080 missense variant G/C;T snv 3
rs28940294
MFN2
0.882 0.080 1 12001423 missense variant G/A snv 4.0E-06 3
rs145770066
MIR6800 ; MED25
0.882 0.080 19 49830790 missense variant C/T snv 3.8E-03 4.3E-03 3
rs121913597
MPZ
0.827 0.160 1 161307268 missense variant T/A snv 3
rs58982919
NEFL
0.790 0.080 8 24956223 missense variant T/C snv 3
rs104894619
PMP22
0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 3
rs104894623
PMP22
0.851 0.200 17 15239591 missense variant C/G;T snv 3
rs113994102
CTDP1
0.925 0.160 18 79710825 intron variant C/T snv 2
rs730882139
DNAJB2
0.925 0.080 2 219281772 splice donor variant G/A snv 2
rs730882140
DNAJB2
0.925 0.080 2 219279847 missense variant A/G snv 2
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
rs397515442
GDAP1
0.882 0.080 8 74360194 missense variant A/G snv 2
rs756461496
GDAP1
0.925 0.080 8 74364305 frameshift variant -/T delins 4.0E-06 2.1E-05 2
rs104894826
GJB1
0.882 0.080 X 71224114 missense variant T/C snv 2
rs29001571
HSPB1
0.851 0.080 7 76303816 missense variant C/A;T snv 8.0E-06 2
rs104894351
HSPB8 ; LOC107984440
0.827 0.080 12 119187078 missense variant A/C;G snv 2
rs724159958
IGHMBP2
0.925 0.080 11 68911496 missense variant T/G snv 2
rs121908160
KIF1B
0.882 0.080 1 10258602 missense variant A/T snv 2
rs756880678
LRSAM1
0.925 0.080 9 127501009 splice acceptor variant G/A snv 2.0E-05 2.8E-05 2
rs786200930
LRSAM1
0.925 0.080 9 127502846 frameshift variant -/GC delins 2
rs781249411
MARS1
0.925 0.080 12 57515926 missense variant C/A snv 3.6E-05 2