Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80338800
LOC105370794 ; CAPN3
0.827 0.120 15 42387803 frameshift variant A/- delins 21
rs104894681
FKRP
0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06 10
rs202160208
GMPPB
0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04 9
rs1564341846
POMT1
0.790 0.280 9 131508926 missense variant C/A snv 8
rs886041287
TTN ; TTN-AS1
0.882 0.160 2 178535594 frameshift variant -/GT delins 8
rs542489955
LOC105375215 ; FKBP14
0.851 0.120 7 30019110 frameshift variant -/G delins 5.5E-04 5.4E-04 6
rs1567782714
ADGRG1
0.882 0.120 16 57655528 stop gained C/T snv 5
rs142336618
GMPPB
0.827 0.120 3 49723648 missense variant C/G snv 4.5E-06; 7.0E-04 5.3E-04 5
rs746361190
CNTNAP1
0.882 0.120 17 42691905 missense variant C/A snv 4.0E-06 4
rs746438011
SYNE1
0.882 0.120 6 152430672 missense variant A/G;T snv 1.2E-05 4
rs797044988
COL6A3
0.882 0.160 2 237359390 splice acceptor variant T/G snv 3
rs121913572
LAMA2
0.882 0.120 6 129481422 stop gained C/G;T snv 5.2E-05 3.5E-05 3
rs1554301637
LAMA2
0.925 0.120 6 129464289 splice acceptor variant TCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCTG/- delins 3
rs1057518970
RYR1
1.000 0.120 19 38448398 missense variant C/T snv 8.0E-06 2.1E-05 3
rs774919231
RYR1
1.000 0.120 19 38451827 stop gained G/A;T snv 8.0E-06 3
rs878854379
COL6A3
0.925 0.120 2 237344754 stop gained G/A;C snv 4.1E-06 2
rs146163970
CHKB-CPT1B ; CHKB ; CHKB-DT
1.000 0.120 22 50582319 missense variant G/A snv 3.0E-04 2.4E-04 1
rs763993653
CPT1B ; CHKB ; CHKB-CPT1B
1.000 0.120 22 50579808 missense variant A/T snv 4.0E-06 1
rs1562530132
LAMA2
1.000 0.120 6 129401238 frameshift variant T/- del 1
rs1057518971
LMNA
1.000 0.120 1 156115048 missense variant G/T snv 1