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
rs113994099
POLG
0.827 0.240 15 89320883 missense variant T/C snv 10
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 9
rs914586984
LOC105371858 ; SCN4A
1.000 0.120 17 63959275 missense variant G/C;T snv 9
rs121434589
MYH2 ; MYHAS
0.851 0.200 17 10535137 missense variant C/T snv 8
rs137853305
TPM2
0.851 0.120 9 35685529 missense variant G/A snv 7
rs118192170
RYR1
0.882 0.120 19 38584989 missense variant T/A;C snv 6
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
rs1555358382
GCH1
14 54844115 stop gained G/A snv 6
rs1555421871
CAPN3
0.882 0.120 15 42399617 frameshift variant G/- delins 6
rs397514677
STIM1
0.851 0.400 11 4023928 missense variant A/G snv 6
rs57983345
LMNA
0.851 0.160 1 156115034 missense variant A/G snv 6
rs121908211
CACNA1A
0.882 0.080 19 13371744 missense variant C/T snv 5
rs1057518957
CHRND
1.000 0.040 2 232535143 missense variant G/T snv 4
rs1057518958
CHRND
1.000 0.040 2 232531353 frameshift variant T/- del 4
rs1373863123
ACTB
1.000 0.080 7 5529540 missense variant G/A snv 4
rs199474714
TPM3
0.925 0.080 1 154173113 missense variant C/T snv 4
rs794728228
FBN1
0.925 0.160 15 48468064 stop gained G/A snv 4
rs1555420508
LOC105370794 ; CAPN3
15 42387891 splice region variant G/A snv 3
rs1057518805
SYT2 ; LOC105371686
1 202596928 inframe deletion ATAGTC/- delins 2
rs746673818
COASY
17 42562625 start lost G/A snv 2
rs387906789
VCP
0.742 0.200 9 35065352 missense variant G/A;C snv 4.0E-06 14
rs760361706
PPARA
22 46235326 missense variant G/C snv 4.0E-06 4
rs1405183655
FA2H
16 74719132 missense variant C/G;T snv 4.0E-06 2