Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1256028809
RTTN
1.000 18 70030114 splice region variant A/T snv 4.0E-06 5
rs138977195
SLC12A3
1.000 0.120 16 56887967 missense variant G/A snv 3.7E-04 4.1E-04 5
rs1555421871
CAPN3
0.882 0.120 15 42399617 frameshift variant G/- delins 6
rs747900252
COL6A2
0.925 0.160 21 46125776 intron variant G/A snv 1.1E-04 7.7E-05 6
rs121913003
DES
0.882 0.200 2 219421532 missense variant C/T snv 6
rs57965306
DES
0.925 0.160 2 219421365 missense variant G/A;C snv 2.8E-05 6
rs1057518962
DMD
X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06 6
rs1555358382
GCH1
14 54844115 stop gained G/A snv 6
rs57983345
LMNA
0.851 0.160 1 156115034 missense variant A/G snv 6
rs118192170
RYR1
0.882 0.120 19 38584989 missense variant T/A;C snv 6
rs397514677
STIM1
0.851 0.400 11 4023928 missense variant A/G snv 6
rs137853306
TPM2
0.882 0.080 9 35689265 missense variant C/T snv 6
rs761051758
HSPB1
0.827 0.160 7 76302805 synonymous variant G/A snv 8.5E-06 7
rs137853305
TPM2
0.851 0.120 9 35685529 missense variant G/A snv 7
rs142000963
LMNA
0.807 0.240 1 156138719 missense variant C/A;T snv 1.2E-03 8
rs121434589
MYH2 ; MYHAS
0.851 0.200 17 10535137 missense variant C/T snv 8
rs35049558
MYL2
0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 8
rs28937581
DYSF
0.827 0.160 2 71570300 missense variant G/T snv 1.2E-05 9
rs914586984
LOC105371858 ; SCN4A
1.000 0.120 17 63959275 missense variant G/C;T snv 9
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 9
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
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 11
rs61672878
LMNA
0.776 0.200 1 156136094 missense variant G/A;T snv 11
rs80338957
SCN4A
0.776 0.160 17 63957427 missense variant G/A snv 11