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: rs879253954
rs879253954
PMP22
4 0.882 0.160 17 15230951 missense variant C/A;T snv 0.010 1.000 1 1998 1998
dbSNP: rs104894621
rs104894621
PMP22
9 0.790 0.080 17 15239575 missense variant G/A snv 0.020 1.000 2 1998 1999
dbSNP: rs121913602
rs121913602
MPZ
5 0.851 0.120 1 161307308 missense variant T/A snv 0.010 1.000 1 1999 1999
dbSNP: rs74315511
rs74315511
SCO2 ; NCAPH2
7 0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04 0.010 1.000 1 2001 2001
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: rs116840817
rs116840817
GJB1
3 0.925 0.080 X 71223852 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs104894708
rs104894708
PRX
5 0.851 0.120 19 40395144 stop gained G/A snv 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs121908160
rs121908160
KIF1B
4 0.882 0.080 1 10258602 missense variant A/T snv 0.010 1.000 1 2004 2004
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2006 2006
dbSNP: rs371856018
rs371856018
MPZ
5 0.882 0.120 1 161307376 missense variant T/C;G snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs745836948
rs745836948
LXN ; GFM1
2 1.000 0.040 3 158669595 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs864622269
rs864622269
ATL1
6 0.851 0.240 14 50628394 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs10636
rs10636
MT2A
7 0.851 0.160 16 56609431 3 prime UTR variant G/C snv 0.26 0.010 1.000 1 2008 2008
dbSNP: rs11076161
rs11076161
MT1A
2 1.000 0.080 16 56639236 intron variant A/G snv 0.71 0.67 0.010 1.000 1 2008 2008
dbSNP: rs121909088
rs121909088
DNM2
3 0.925 0.080 19 10819992 missense variant A/G snv 0.010 1.000 1 2009 2009
dbSNP: rs145770066
rs145770066
MED25 ; MIR6800
4 0.882 0.080 19 49830790 missense variant C/T snv 3.8E-03 4.3E-03 0.010 1.000 1 2009 2009
dbSNP: rs267606772
rs267606772
DNM2
3 0.925 0.080 19 10793799 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs104894075
rs104894075
GDAP1
5 0.851 0.080 8 74362940 stop gained C/G snv 4.0E-06 2.1E-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 0.010 1.000 1 2010 2010
dbSNP: rs1265794840
rs1265794840
ERCC2
6 0.851 0.160 19 45365131 missense variant C/T snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs138382758
rs138382758
MFN2
2 1.000 0.080 1 12004835 missense variant G/A snv 2.1E-03 2.5E-03 0.010 1.000 1 2010 2010
dbSNP: rs28940291
rs28940291
MFN2
9 0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs748095370
rs748095370
GJB1
1 X 71224215 missense variant G/A snv 2.3E-05 1.9E-05 0.010 1.000 1 2010 2010
dbSNP: rs104894619
rs104894619
PMP22
9 0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 0.030 1.000 3 2003 2011
dbSNP: rs1553259662
rs1553259662
MPZ
7 0.827 0.200 1 161306821 missense variant A/G snv 0.010 1.000 1 2011 2011