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: rs267607144
rs267607144
TRPV4
17 0.716 0.360 12 109800665 missense variant C/T snv 0.700 0
dbSNP: rs80356814
rs80356814
LMNA
15 0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06 0.700 0
dbSNP: rs137852973
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
13 0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121913603
rs121913603
MPZ
12 0.732 0.160 1 161306722 missense variant T/C;G snv 2.0E-05 0.010 1.000 1 2003 2003
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: rs121918312
rs121918312
BAG3
11 0.776 0.160 10 119672373 missense variant C/A;T snv 0.700 0
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: rs104894621
rs104894621
PMP22
9 0.790 0.080 17 15239575 missense variant G/A snv 0.020 1.000 2 2004 2009
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: rs104894080
rs104894080
GDAP1
9 0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05 0.010 1.000 1 2010 2010
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: 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: rs121918054
rs121918054
POLG
8 0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs397515323
rs397515323
PDK3
7 0.851 0.080 X 24503479 missense variant G/A snv 0.020 1.000 2 2016 2016
dbSNP: rs104894351
rs104894351
HSPB8 ; LOC107984440
7 0.827 0.080 12 119187078 missense variant A/C;G snv 0.710 1.000 1 2006 2006
dbSNP: rs119103267
rs119103267
MFN2
7 0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04 0.010 1.000 1 2015 2015
dbSNP: rs1553259662
rs1553259662
MPZ
7 0.827 0.200 1 161306821 missense variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs60864230
rs60864230
LMNA
7 0.790 0.280 1 156130658 missense variant G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs119103268
rs119103268
MFN2
6 0.827 0.080 1 11992689 missense variant C/T snv 0.710 1.000 4 2008 2014
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: rs104894161
rs104894161
EGR2
6 0.807 0.080 10 62813563 missense variant G/A snv 0.010 1.000 1 2005 2005
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: 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