Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs914586984
LOC105371858 ; SCN4A
1.000 0.120 17 63959275 missense variant G/C;T snv 9
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
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
rs781934508
SURF1
1.000 0.080 9 133352441 splice region variant C/A;T snv 2.4E-05 4
rs117184249
SYNE1
1.000 0.120 6 152401278 missense variant C/T snv 9.3E-04 4.0E-04 3
rs121908893
SLC22A5
1.000 0.160 5 132385435 stop gained C/A;T snv 5.3E-04; 1.2E-04 3
rs750174047
DNAH8
1.000 0.080 6 38722964 missense variant A/T snv 8.2E-06 3
rs764959600
PLA2G6
1.000 0.040 22 38169424 start lost C/A;T snv 4.0E-06 3
rs772816537
TPM3
1.000 0.080 1 154173179 missense variant G/A snv 8.0E-06 3
rs57965306
DES
0.925 0.160 2 219421365 missense variant G/A;C snv 2.8E-05 6
rs747900252
COL6A2
0.925 0.160 21 46125776 intron variant G/A snv 1.1E-04 7.7E-05 6
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
rs794728228
FBN1
0.925 0.160 15 48468064 stop gained G/A snv 4
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del 14
rs1217391623
SPG7
0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 11
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
rs1555421871
CAPN3
0.882 0.120 15 42399617 frameshift variant G/- delins 6
rs121908211
CACNA1A
0.882 0.080 19 13371744 missense variant C/T snv 5
rs746438011
SYNE1
0.882 0.120 6 152430672 missense variant A/G;T snv 1.2E-05 4