Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs201518227
TOR1AIP1
1.000 1 179917914 missense variant C/T snv 3.2E-05 5.6E-05 13
rs1555452876
PKD1 ; MIR6511B1
1.000 16 2106222 inframe deletion CTC/- delins 5
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
rs201892814
CAPN3
1.000 0.040 15 42403721 intron variant C/G snv 3.1E-03; 2.4E-05 3.1E-03 8
rs116840789
SSUH2 ; CAV3
0.925 0.080 3 8745547 missense variant G/A;T snv 2
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
rs622288
MSTO1 ; LOC105371452
0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 15
rs914586984
LOC105371858 ; SCN4A
1.000 0.120 17 63959275 missense variant G/C;T snv 9
rs104894080
GDAP1
0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05 8
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