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: rs1565930588
rs1565930588
HSPB8
19 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
dbSNP: rs267606673
rs267606673
ATP7A ; PGK1
9 0.776 0.240 X 78029314 missense variant C/T snv 0.040 1.000 4 2010 2016
dbSNP: rs267606672
rs267606672
ATP7A ; PGK1
2 0.925 0.080 X 78045502 missense variant C/T snv 0.030 1.000 3 2010 2016
dbSNP: rs137852972
rs137852972
BSCL2 ; HNRNPUL2-BSCL2
10 0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05 0.020 1.000 2 2009 2013
dbSNP: rs137852973
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
13 0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 0.020 1.000 2 2007 2013
dbSNP: rs770272088
rs770272088
HSPB1
4 0.882 0.080 7 76302962 missense variant G/A;C;T snv 6.8E-06 0.020 1.000 2 2013 2017
dbSNP: rs104894020
rs104894020
HSPB1
3 0.882 0.080 7 76304099 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs104894351
rs104894351
HSPB8 ; LOC107984440
7 0.827 0.080 12 119187078 missense variant A/C;G snv 0.010 1.000 1 2006 2006
dbSNP: rs1131691852
rs1131691852
MPZ
1 1.000 0.040 1 161306847 synonymous variant C/A snv 0.010 1.000 1 2016 2016
dbSNP: rs121908332
rs121908332
KCNK9
5 0.882 0.240 8 139618677 missense variant C/G;T snv 0.010 < 0.001 1 2020 2020
dbSNP: rs121909113
rs121909113
HSPB1
3 0.925 0.040 7 76303007 missense variant C/A snv 0.010 1.000 1 2013 2013
dbSNP: rs121918085
rs121918085
TTR
3 0.882 0.160 18 31595181 missense variant A/T snv 1.6E-05 3.5E-05 0.010 1.000 1 2003 2003
dbSNP: rs121918087
rs121918087
TTR
3 0.882 0.120 18 31598581 missense variant C/G snv 0.010 1.000 1 1994 1994
dbSNP: rs267607161
rs267607161
TTR
16 0.742 0.360 18 31598580 missense variant G/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs28939681
rs28939681
HSPB1
2 0.925 0.080 7 76303843 missense variant C/T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs29001571
rs29001571
HSPB1
4 0.851 0.080 7 76303816 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs387906829
rs387906829
SIGMAR1
3 0.882 0.080 9 34637268 missense variant C/G;T snv 5.3E-06 0.010 1.000 1 2019 2019
dbSNP: rs587777782
rs587777782
SYT2 ; LOC105371686
2 0.925 0.040 1 202599348 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs753056697
rs753056697
AKR1A1
2 1.000 0.040 1 45568049 missense variant G/A snv 2.6E-04 3.5E-05 0.010 1.000 1 2006 2006
dbSNP: rs782665277
rs782665277
ATP7A ; PGK1
1 1.000 0.040 X 78031563 missense variant T/C snv 5.5E-06 0.010 1.000 1 2016 2016