Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del 33
rs1563221666
SFTPC
0.882 0.120 8 22162694 missense variant C/T snv 14
rs140614802
LOC107984670 ; ADSS1
0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05 10
rs781908532
SLC25A1
0.827 0.160 22 19176585 missense variant C/A;T snv 4.0E-06; 1.6E-05 7.0E-06 8
rs1554066397
SMN1 ; SMN2
0.925 0.080 5 70925108 missense variant C/G;T snv 7
rs757917335
DYSF
1.000 0.120 2 71611481 missense variant T/C snv 2.0E-05 6
rs1131692158
DYSF
1.000 0.120 2 71669207 missense variant G/A;C snv 5
rs763944786
RYR1
0.925 0.080 19 38469119 missense variant C/T snv 1.2E-05 1.4E-05 5
rs143570936
SGCA
0.925 0.200 17 50169246 missense variant G/A snv 1.1E-04 1.8E-04 5
rs886039905
COL6A2
0.882 0.240 21 46125854 frameshift variant -/T delins 4
rs1057516051
DYSF
1.000 0.120 2 71660587 frameshift variant G/- delins 2