Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs201518227
TOR1AIP1
1.000 1 179917914 missense variant C/T snv 3.2E-05 5.6E-05 13
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
rs770905160
DYSF
0.882 0.120 2 71656236 stop gained C/G;T snv 1.2E-05 5
rs200916654
DYSF
0.925 0.120 2 71551635 missense variant T/C snv 2.9E-05 4
rs116840778
SSUH2 ; CAV3
0.882 0.200 3 8733956 missense variant G/A;C snv 4
rs116840789
SSUH2 ; CAV3
0.925 0.080 3 8745547 missense variant G/A;T snv 2
rs116840786
CAV3 ; SSUH2
3 8733962 missense variant C/A;T snv 1
rs116840795
CAV3 ; SSUH2
1.000 0.120 3 8745580 missense variant G/A snv 1.2E-05 7.0E-06 1
rs1559697515
GMPPB
3 49723016 missense variant T/C snv 1
rs1553846331
DOK7
0.925 0.120 4 3473504 missense variant C/T snv 4
rs756015202
DOK7
0.925 0.120 4 3493047 missense variant C/T snv 5.5E-06 4
rs202247792
LAMA2
0.925 0.120 6 129486605 missense variant T/C;G snv 8.0E-06 5
rs398123383
LAMA2
1.000 0.120 6 129460287 stop gained C/T snv 1.6E-05 7.0E-06 4
rs104894080
GDAP1
0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05 8
rs886044913
ASTN2 ; TRIM32
9 116699102 frameshift variant -/TA delins 1
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs137854521
ANO5
0.851 0.200 11 22221100 frameshift variant -/A delins 9
rs375014127
ANO5
1.000 0.120 11 22262162 missense variant G/A;T snv 4.0E-06; 6.8E-05 4
rs776474397
ANO5
11 22227300 splice acceptor variant A/G snv 1
rs886044915
ANO5
11 22236272 missense variant A/C snv 1
rs80338800
LOC105370794 ; CAPN3
0.827 0.120 15 42387803 frameshift variant A/- delins 21