Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894369
MYL2
0.807 0.080 12 110914287 missense variant C/A;T snv 10
rs142000963
LMNA
0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 8
rs781934508
SURF1
1.000 0.080 9 133352441 splice region variant C/A;T snv 2.4E-05 4
rs121908893
SLC22A5
1.000 0.160 5 132385435 stop gained C/A;T snv 5.3E-04; 1.2E-04 3
rs764959600
PLA2G6
1.000 0.040 22 38169424 start lost C/A;T snv 4.0E-06 3
rs757725417
IMMT
2 86144399 missense variant C/G;T snv 4.0E-06; 4.0E-06 3
rs1405183655
FA2H
16 74719132 missense variant C/G;T snv 4.0E-06 2
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 45
rs61755320
SPG7
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 41
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs146539065
SEPSECS
0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 34
rs151344517
LOC107985154 ; AFG3L2 ; TUBB6
0.742 0.320 18 12337505 missense variant C/T snv 31
rs267607261
MPV17
0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 28
rs80356616
KCNJ11
0.732 0.360 11 17387917 missense variant C/T snv 19
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 15
rs121434589
MYH2 ; MYHAS
0.851 0.200 17 10535137 missense variant C/T snv 8
rs121913003
DES
0.882 0.200 2 219421532 missense variant C/T snv 6
rs137853306
TPM2
0.882 0.080 9 35689265 missense variant C/T snv 6
rs121908211
CACNA1A
0.882 0.080 19 13371744 missense variant C/T snv 5
rs199474714
TPM3
0.925 0.080 1 154173113 missense variant C/T snv 4
rs75586164
SMN2
0.925 0.080 5 70070651 missense variant C/T snv 1.3E-04 4
rs117184249
SYNE1
1.000 0.120 6 152401278 missense variant C/T snv 9.3E-04 4.0E-04 3
rs369447743
DCAF17 ; METTL8
2 171434679 synonymous variant C/T snv 7.4E-04 7.7E-05 2
rs794728448
KCNH2
0.724 0.280 7 150948445 frameshift variant CT/G delins 17
rs780631499
AGTPBP1
0.763 0.280 9 85588465 frameshift variant G/- del 4.0E-06 7.0E-06 23