Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 37
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 22
rs1565930588
HSPB8
0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 19
rs869320701
DNAJB6
0.925 0.080 7 157367408 missense variant T/A;G snv 8
rs143003434
SPAST
1.000 0.080 2 32098840 missense variant G/A snv 3.2E-05 3.5E-05 7
rs757917335
DYSF
1.000 0.120 2 71611481 missense variant T/C snv 2.0E-05 6