Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913595
rs121913595
MPZ
11 0.742 0.160 1 161306785 missense variant G/A;T snv 0.760 1.000 6 1999 2004
dbSNP: rs587781250
rs587781250
HSPB1
1 1.000 0.080 7 76303817 missense variant G/A;T snv 4.0E-06 2.8E-05 0.700 1.000 5 2004 2014
dbSNP: rs58982919
rs58982919
NEFL
10 0.790 0.080 8 24956223 missense variant T/C snv 0.050 1.000 5 2002 2018
dbSNP: rs80338933
rs80338933
SH3TC2
9 0.807 0.080 5 149026872 stop gained G/A snv 7.5E-04; 4.0E-06 6.6E-04 0.710 1.000 5 2003 2014
dbSNP: rs104894619
rs104894619
PMP22
9 0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 0.040 1.000 4 2003 2011
dbSNP: rs119103268
rs119103268
MFN2
6 0.827 0.080 1 11992689 missense variant C/T snv 0.710 1.000 4 2008 2014
dbSNP: rs59885338
rs59885338
LMNA
4 0.851 0.120 1 156135268 missense variant C/T snv 3.6E-05 2.8E-05 0.730 1.000 3 2003 2008
dbSNP: rs104894075
rs104894075
GDAP1
5 0.851 0.080 8 74362940 stop gained C/G snv 4.0E-06 2.1E-05 0.020 1.000 2 2003 2011
dbSNP: rs104894077
rs104894077
GDAP1
8 0.790 0.080 8 74361886 stop gained C/T snv 7.6E-05 1.5E-04 0.020 1.000 2 2010 2017
dbSNP: rs104894078
rs104894078
GDAP1
5 0.851 0.080 8 74360184 missense variant C/T snv 7.0E-06 0.720 1.000 2 2010 2015
dbSNP: rs104894345
rs104894345
HSPB8 ; LOC107984440
6 0.827 0.080 12 119187080 missense variant G/C;T snv 0.720 1.000 2 2006 2017
dbSNP: rs104894621
rs104894621
PMP22
9 0.790 0.080 17 15239575 missense variant G/A snv 0.020 1.000 2 2004 2009
dbSNP: rs1057515421
rs1057515421
LMNA
2 0.925 0.120 1 156136284 stop gained C/T snv 0.020 1.000 2 2003 2008
dbSNP: rs142000963
rs142000963
LMNA
8 0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 0.700 1.000 2 2008 2014
dbSNP: rs1476856429
rs1476856429
GDAP1
3 0.882 0.080 8 74364057 missense variant A/G snv 1.2E-05 7.0E-06 0.020 1.000 2 2011 2018
dbSNP: rs1553259760
rs1553259760
MPZ
2 0.925 0.080 1 161307299 missense variant T/C snv 0.020 1.000 2 2004 2018
dbSNP: rs281865128
rs281865128
MPZ
5 0.882 0.080 1 161306426 missense variant C/G;T snv 0.020 1.000 2 2002 2019
dbSNP: rs281865140
rs281865140
NEFL ; MIR6841
2 0.925 0.080 8 24955515 missense variant T/C;G snv 0.020 1.000 2 2006 2012
dbSNP: rs28940291
rs28940291
MFN2
9 0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06 0.020 1.000 2 2010 2019
dbSNP: rs29001571
rs29001571
HSPB1
4 0.851 0.080 7 76303816 missense variant C/A;T snv 8.0E-06 0.020 1.000 2 2005 2010
dbSNP: rs397515323
rs397515323
PDK3
7 0.851 0.080 X 24503479 missense variant G/A snv 0.020 1.000 2 2016 2016
dbSNP: rs57105105
rs57105105
NEFL ; MIR6841
4 0.925 0.080 8 24953776 missense variant C/T snv 0.020 1.000 2 2004 2015
dbSNP: rs59443585
rs59443585
NEFL ; MIR6841
2 0.925 0.080 8 24955521 missense variant T/G snv 0.020 1.000 2 2006 2012
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
3 0.882 0.080 8 24953779 missense variant C/T snv 0.020 1.000 2 2015 2017
dbSNP: rs879253869
rs879253869
PMP2
3 0.925 0.080 8 81444935 missense variant A/T snv 0.020 1.000 2 2016 2019