Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs690016543
SBF1
0.925 0.080 22 50465006 missense variant C/T snv 2
rs724159958
IGHMBP2
0.925 0.080 11 68911496 missense variant T/G 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
rs756461496
GDAP1
0.925 0.080 8 74364305 frameshift variant -/T delins 4.0E-06 2.1E-05 2
rs756880678
LRSAM1
0.925 0.080 9 127501009 splice acceptor variant G/A snv 2.0E-05 2.8E-05 2
rs781249411
MARS1
0.925 0.080 12 57515926 missense variant C/A snv 3.6E-05 2
rs786200930
LRSAM1
0.925 0.080 9 127502846 frameshift variant -/GC delins 2
rs80338934
SH3TC2
0.882 0.080 5 149010272 stop gained G/A snv 4.0E-05 3.5E-05 2
rs863225026
MPZ
0.925 0.080 1 161305973 splice acceptor variant TCTGGGGGAGGGGCG/- delins 2
rs864622180
PMP22
0.925 0.080 17 15259134 frameshift variant G/- delins 2
rs864622664
SH3TC2
0.925 0.080 5 149010294 frameshift variant C/- delins 7.0E-06 2
rs879253869
PMP2
0.925 0.080 8 81444935 missense variant A/T snv 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
rs104894822
GJB1
0.925 0.080 X 71224321 missense variant A/G snv 1
rs1060503021
HSPB1
0.925 0.080 7 76304077 stop gained GC/CT mnv 1
rs121908113
GDAP1
0.925 0.080 8 74363011 missense variant C/G snv 1
rs121909088
DNM2
0.925 0.080 19 10819992 missense variant A/G snv 1