Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs116840786
CAV3 ; SSUH2
3 8733962 missense variant C/A;T snv 1
rs1555606976
TCAP
17 39665448 frameshift variant GT/- delins 1
rs1556980528
DMD
X 32738791 intron variant T/C snv 1
rs1559697515
GMPPB
3 49723016 missense variant T/C snv 1
rs1567825175
GAA
17 80104590 stop gained G/T snv 1
rs776474397
ANO5
11 22227300 splice acceptor variant A/G snv 1
rs886044913
ASTN2 ; TRIM32
9 116699102 frameshift variant -/TA delins 1
rs886044915
ANO5
11 22236272 missense variant A/C snv 1
rs886044916
DMD
X 31209534 missense variant T/C snv 1
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
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
rs104894080
GDAP1
0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05 8
rs1208636573
MSTO1 ; LOC105371452
0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06 15
rs622288
MSTO1 ; LOC105371452
0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 15
rs80338800
LOC105370794 ; CAPN3
0.827 0.120 15 42387803 frameshift variant A/- delins 21
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv 22
rs137854521
ANO5
0.851 0.200 11 22221100 frameshift variant -/A delins 9
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
rs886039785
DMD
0.925 0.120 X 31496876 stop gained C/T snv 7