Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518834
DMD
X 32849737 frameshift variant C/- delins 9
rs746361190
CNTNAP1
0.882 0.120 17 42691905 missense variant C/A snv 4.0E-06 4
rs797046047
TPM3
1.000 0.080 1 154170441 missense variant C/A snv 2
rs886044514
GNE ; CLTA
1.000 0.120 9 36249352 stop gained C/A snv 4.0E-06 7.0E-06 2
rs121909329
VCP
0.763 0.200 9 35065363 missense variant C/A;G;T snv 11
rs149278319
DNAJB6
1.000 7 157367416 missense variant C/A;G;T snv 4.0E-06; 1.4E-03 2
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 37
rs121918312
BAG3
0.776 0.160 10 119672373 missense variant C/A;T snv 11
rs104894369
MYL2
0.807 0.080 12 110914287 missense variant C/A;T snv 10
rs55960271
CLCN1
0.882 0.120 7 143351678 stop gained C/A;T snv 4.0E-06; 2.9E-03 5
rs62636495
DES
0.925 0.200 2 219418500 missense variant C/A;T snv 4
rs121908627
CLTA ; GNE
0.925 0.160 9 36217448 missense variant C/A;T snv 8.9E-04; 1.7E-03 3
rs797045935
RYR1
19 38506860 stop gained C/A;T snv 1
rs122458141
FHL1
1.000 0.120 X 136208625 missense variant C/G snv 2
rs387907047
DNAJB6
1.000 7 157367424 missense variant C/G snv 2
rs1231213195
DES
2 219418473 missense variant C/G snv 4.5E-06 1
rs118192177
RYR1
0.851 0.160 19 38496283 missense variant C/G;T snv 2.0E-05 6
rs58912633
LMNA
0.851 0.240 1 156130688 missense variant C/G;T snv 5
rs149104283
SLCO1B3-SLCO1B7
0.882 0.040 12 20930928 intron variant C/G;T snv 4
rs879253979
DYNC1H1
0.925 0.120 14 101979951 missense variant C/G;T snv 4
rs757725417
IMMT
2 86144399 missense variant C/G;T snv 4.0E-06; 4.0E-06 3
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs74315401
PRNP
0.683 0.320 20 4699525 missense variant C/T snv 32
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 23
rs1815739
ACTN3
0.763 0.240 11 66560624 stop gained C/T snv 0.37 17