Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137854521
ANO5
0.851 0.200 11 22221100 frameshift variant -/A delins 9
rs199476140
COX1 ; ND2 ; TRNQ ; ND1
MT 4365 non coding transcript exon variant -/A delins 1
rs35049558
MYL2
0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 8
rs1555606959
TCAP
1.000 0.120 17 39665391 frameshift variant -/G delins 2
rs1557182317
EMD
0.925 0.160 X 154379790 frameshift variant -/T delins 3
rs1057518855
ANO5
11 22270443 splice donor variant -/T delins 1
rs1198364572
TTN ; TTN-AS1
2 178671132 frameshift variant -/T delins 1
rs797045933
RYR1
19 38467665 inframe insertion -/TCCTAT delins 1
rs80338800
LOC105370794 ; CAPN3
0.827 0.120 15 42387803 frameshift variant A/- delins 21
rs137852539
PGK1
1.000 0.080 X 78125344 missense variant A/C snv 2
rs1057518866
DMD
X 32343174 stop gained A/C snv 1
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 81
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 22
rs121918075
TTR
0.752 0.280 18 31598632 missense variant A/G snv 15
rs730882052
CASQ1
1.000 1 160195976 missense variant A/G snv 2
rs10871700 18 72302261 intergenic variant A/G snv 0.72 1
rs33428
ZNF536
19 30446936 intron variant A/G snv 0.71 1
rs757592525
DMD
X 31478270 missense variant A/G snv 5.5E-06 1
rs77051277
LOC105371433
1 150167075 downstream gene variant A/G snv 2.2E-04 1
rs797045477
COL6A1
21 45990771 splice acceptor variant A/G snv 1
rs797045730
MYH7 ; MHRT
14 23416071 missense variant A/G snv 1
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs57045855
LMNA
0.882 0.040 1 156134464 missense variant A/G;T snv 6
rs1057518905
DPM3
1 155140104 missense variant A/T snv 3
rs137854430
TK2
1.000 16 66513795 missense variant A/T snv 2