Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs367543077
B3GALNT2 ; TBCE
0.882 0.120 1 235450286 stop gained G/A snv 1
rs869025337
BVES
0.925 0.120 6 105124593 missense variant G/A;C snv 4.0E-06 1
rs1557058294
DMD
1.000 0.120 X 32823294 splice donor variant C/T snv 1
rs34997054
DYSF
1.000 0.120 2 71511847 missense variant G/A snv 7.1E-03 4.1E-03 1
rs121909518
FLNC-AS1 ; FLNC
0.882 0.120 7 128858475 stop gained G/A snv 1
rs1553264624
LMNA
1.000 0.120 1 156130724 inframe deletion AGCGCACGCTGGAGG/- del 1
rs1553265369
LMNA
1.000 0.120 1 156134954 inframe deletion GAG/- delins 1
rs1553265433
LMNA
1.000 0.120 1 156135208 missense variant G/C snv 1
rs1553265436
LMNA
1.000 0.120 1 156135214 inframe deletion GAACAG/- delins 1
rs1553265761
LMNA
1.000 0.120 1 156136111 inframe deletion GAG/- delins 1
rs267607576
LMNA
0.925 0.160 1 156136219 missense variant G/A;C snv 1.2E-05 1
rs267607634
LMNA
0.925 0.120 1 156136045 missense variant G/A;C snv 1
rs267607644
LMNA
1.000 0.120 1 156115022 missense variant T/C snv 1
rs57207746
LMNA
0.925 0.120 1 156134860 missense variant G/A snv 1
rs769561386
LMNA
1.000 0.120 1 156138575 missense variant G/A snv 2.0E-05 1.4E-05 1
rs780302064
LMNA
1.000 0.120 1 156137212 missense variant C/G;T snv 9.5E-06 1
rs755660222
POMT2
1.000 0.120 14 77301228 frameshift variant C/- delins 1.2E-05 1
rs797045898
POMT2
1.000 0.120 14 77283874 splice acceptor variant CTAGG/TCA delins 1
rs116840805
SSUH2 ; CAV3
0.827 0.160 3 8745725 missense variant C/T snv 1
rs1556962271
DMD
0.925 0.120 X 31875197 frameshift variant -/AATG delins 2
rs1557396600
DMD
0.925 0.120 X 32518006 splice donor variant A/C snv 2
rs1553555585
DYSF
0.925 0.120 2 71570335 splice donor variant G/T snv 2
rs199474724
LMNA
0.851 0.120 1 156134839 missense variant G/A snv 2
rs121908458
MYOT ; LOC101928005
0.882 0.120 5 137870830 missense variant C/G;T snv 3.6E-05 2
rs28933693
SGCA ; LOC105371818
0.882 0.200 17 50167653 missense variant C/T snv 4.6E-04 4.5E-04 2