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: rs786200930
rs786200930
LRSAM1
2 0.925 0.080 9 127502846 frameshift variant -/GC delins 0.710 1.000 1 2017 2017
dbSNP: rs756461496
rs756461496
GDAP1
2 0.925 0.080 8 74364305 frameshift variant -/T delins 4.0E-06 2.1E-05 0.700 1.000 1 2014 2014
dbSNP: rs886041386
rs886041386
GDAP1
1 1.000 0.080 8 74361900 frameshift variant A/- del 4.0E-06 2.8E-05 0.700 1.000 1 2014 2014
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: rs572010627
rs572010627
MPZ
4 0.851 0.160 1 161306738 missense variant A/C;T snv 8.0E-06 0.010 1.000 1 2002 2002
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: rs104894617
rs104894617
PMP22
4 0.851 0.080 17 15260681 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs104894822
rs104894822
GJB1
2 0.925 0.080 X 71224321 missense variant A/G snv 0.010 1.000 1 1999 1999
dbSNP: rs121909088
rs121909088
DNM2
3 0.925 0.080 19 10819992 missense variant A/G snv 0.010 1.000 1 2009 2009
dbSNP: rs1553259662
rs1553259662
MPZ
7 0.827 0.200 1 161306821 missense variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs199927590
rs199927590
DNM2
1 1.000 0.080 19 10797424 missense variant A/G snv 1.1E-04 1.0E-04 0.700 1.000 1 2014 2014
dbSNP: rs2236057
rs2236057
MFN2
2 0.925 0.120 1 12002148 intron variant A/G snv 0.65 0.65 0.010 < 0.001 1 2016 2016
dbSNP: rs387906738
rs387906738
DYNC1H1
3 0.882 0.080 14 101980506 missense variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs397515442
rs397515442
GDAP1
4 0.882 0.080 8 74360194 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs62636505
rs62636505
NEFL
2 0.925 0.080 8 24956235 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs730882140
rs730882140
DNAJB2
2 0.925 0.080 2 219279847 missense variant A/G snv 0.700 0
dbSNP: rs879253869
rs879253869
PMP2
3 0.925 0.080 8 81444935 missense variant A/T snv 0.020 1.000 2 2016 2019
dbSNP: rs104894158
rs104894158
EGR2
5 0.851 0.080 10 62813835 missense variant A/T snv 0.010 1.000 1 2009 2009
dbSNP: rs104894707
rs104894707
PRX
4 0.882 0.080 19 40396207 stop gained A/T snv 8.0E-06 5.6E-05 0.010 1.000 1 2002 2002
dbSNP: rs121908160
rs121908160
KIF1B
4 0.882 0.080 1 10258602 missense variant A/T snv 0.700 0
dbSNP: rs724159994
rs724159994
IGHMBP2
3 0.882 0.120 11 68939658 frameshift variant AG/- delins 0.700 0
dbSNP: rs1482355069
rs1482355069
PMP22
1 1.000 0.080 17 15259155 frameshift variant C/- delins 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs864622664
rs864622664
SH3TC2
2 0.925 0.080 5 149010294 frameshift variant C/- delins 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs786205112
rs786205112
PMP22
1 1.000 0.080 17 15239509 frameshift variant C/-;CC delins 0.010 < 0.001 1 2013 2013
dbSNP: rs1131691282
rs1131691282
GDAP1
1 1.000 0.080 8 74361935 missense variant C/A snv 0.010 1.000 1 2011 2011