Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 33
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv 22
rs80338800
LOC105370794 ; CAPN3
0.827 0.120 15 42387803 frameshift variant A/- delins 21
rs1208636573
MSTO1 ; LOC105371452
0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06 15
rs137854521
ANO5
0.851 0.200 11 22221100 frameshift variant -/A delins 9
rs914586984
LOC105371858 ; SCN4A
1.000 0.120 17 63959275 missense variant G/C;T snv 9
rs886039785
DMD
0.925 0.120 X 31496876 stop gained C/T snv 7
rs757917335
DYSF
1.000 0.120 2 71611481 missense variant T/C snv 2.0E-05 6
rs1131692158
DYSF
1.000 0.120 2 71669207 missense variant G/A;C snv 5
rs1553521119
DYSF
0.925 0.120 2 71513892 frameshift variant C/- del 5
rs1555452876
PKD1 ; MIR6511B1
1.000 16 2106222 inframe deletion CTC/- delins 5
rs202247792
LAMA2
0.925 0.120 6 129486605 missense variant T/C;G snv 8.0E-06 5
rs770905160
DYSF
0.882 0.120 2 71656236 stop gained C/G;T snv 1.2E-05 5
rs116840778
SSUH2 ; CAV3
0.882 0.200 3 8733956 missense variant G/A;C snv 4
rs1553846331
DOK7
0.925 0.120 4 3473504 missense variant C/T snv 4
rs200916654
DYSF
0.925 0.120 2 71551635 missense variant T/C snv 2.9E-05 4
rs375014127
ANO5
1.000 0.120 11 22262162 missense variant G/A;T snv 4.0E-06; 6.8E-05 4
rs756015202
DOK7
0.925 0.120 4 3493047 missense variant C/T snv 5.5E-06 4
rs886042604
DMD
1.000 0.120 X 33020138 splice donor variant C/G;T snv 3
rs116840789
SSUH2 ; CAV3
0.925 0.080 3 8745547 missense variant G/A;T snv 2
rs1556880327
DMD
X 31774182 frameshift variant -/T delins 2
rs1057516028
DMD
X 32287680 stop gained G/A snv 1
rs1114167437
DMD
X 31178681 frameshift variant T/- del 1
rs1114167439
DMD
X 32438240 splice donor variant C/- delins 1