Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1565930588
HSPB8
0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 19
rs267607161
TTR
0.742 0.360 18 31598580 missense variant G/T snv 4.0E-06 7.0E-06 16
rs137852973
BSCL2 ; HNRNPUL2-BSCL2
0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06 13
rs137852972
BSCL2 ; HNRNPUL2-BSCL2
0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05 10
rs267606673
ATP7A ; PGK1
0.776 0.240 X 78029314 missense variant C/T snv 9
rs104894351
HSPB8 ; LOC107984440
0.827 0.080 12 119187078 missense variant A/C;G snv 7
rs121908332
KCNK9
0.882 0.240 8 139618677 missense variant C/G;T snv 5
rs29001571
HSPB1
0.851 0.080 7 76303816 missense variant C/A;T snv 8.0E-06 4
rs770272088
HSPB1
0.882 0.080 7 76302962 missense variant G/A;C;T snv 6.8E-06 4
rs104894020
HSPB1
0.882 0.080 7 76304099 missense variant C/T snv 3
rs121909113
HSPB1
0.925 0.040 7 76303007 missense variant C/A snv 3
rs387906829
SIGMAR1
0.882 0.080 9 34637268 missense variant C/G;T snv 5.3E-06 3
rs121918085
TTR
0.882 0.160 18 31595181 missense variant A/T snv 1.6E-05 3.5E-05 3
rs121918087
TTR
0.882 0.120 18 31598581 missense variant C/G snv 3
rs753056697
AKR1A1
1.000 0.040 1 45568049 missense variant G/A snv 2.6E-04 3.5E-05 2
rs267606672
ATP7A ; PGK1
0.925 0.080 X 78045502 missense variant C/T snv 2
rs28939681
HSPB1
0.925 0.080 7 76303843 missense variant C/T snv 4.0E-06; 8.0E-06 2
rs587777782
LOC105371686 ; SYT2
0.925 0.040 1 202599348 missense variant G/A snv 2
rs782665277
ATP7A ; PGK1
1.000 0.040 X 78031563 missense variant T/C snv 5.5E-06 1
rs1131691852
MPZ
1.000 0.040 1 161306847 synonymous variant C/A snv 1