Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1373863123
ACTB
1.000 0.080 7 5529540 missense variant G/A snv 4
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs1554699491
AGTPBP1
0.763 0.280 9 85596450 splice acceptor variant C/A snv 23
rs780631499
AGTPBP1
0.763 0.280 9 85588465 frameshift variant G/- del 4.0E-06 7.0E-06 23
rs1373219981
ATP13A2
1 17011736 start lost C/A snv 1.3E-05 2
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 45
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del 14
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins 12
rs121908211
CACNA1A
0.882 0.080 19 13371744 missense variant C/T snv 5
rs1555421871
CAPN3
0.882 0.120 15 42399617 frameshift variant G/- delins 6
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
rs746673818
COASY
17 42562625 start lost G/A snv 2
rs764492939
COASY
17 42562414 start lost G/A snv 1.6E-05 2.1E-05 2
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del 33
rs747900252
COL6A2
0.925 0.160 21 46125776 intron variant G/A snv 1.1E-04 7.7E-05 6
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 13
rs369447743
DCAF17 ; METTL8
2 171434679 synonymous variant C/T snv 7.4E-04 7.7E-05 2
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 11
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
rs750174047
DNAH8
1.000 0.080 6 38722964 missense variant A/T snv 8.2E-06 3
rs28937581
DYSF
0.827 0.160 2 71570300 missense variant G/T snv 1.2E-05 9