Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs104894128
TPM2
1.000 0.080 9 35685486 missense variant T/G snv 2
rs104894201
CRYAB
0.763 0.280 11 111908934 missense variant T/C snv 12
rs104894294
RAPSN
1.000 11 47447853 missense variant G/A snv 2.0E-05 2.1E-05 2
rs104894299
RAPSN
0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03 6
rs104894369
MYL2
0.807 0.080 12 110914287 missense variant C/A;T snv 10
rs1057516031
MTM1
1.000 0.080 X 150598681 stop gained G/T snv 3
rs1057518773
RYR1
19 38505868 stop gained G/A snv 1
rs1057518834
DMD
X 32849737 frameshift variant C/- delins 9
rs1057518851
TTN ; TTN-AS1
2 178571565 stop gained C/T snv 1
rs1057518855
ANO5
11 22270443 splice donor variant -/T delins 1
rs1057518866
DMD
X 32343174 stop gained A/C snv 1
rs1057518905
DPM3
1 155140104 missense variant A/T snv 3
rs1057518970
RYR1
1.000 0.120 19 38448398 missense variant C/T snv 8.0E-06 2.1E-05 3
rs1057521899
TK2
1.000 0.200 16 66512039 missense variant T/A;G snv 2
rs10871700 18 72302261 intergenic variant A/G snv 0.72 1
rs10872257 6 122969896 intergenic variant C/T snv 0.44 1
rs111033570
ASTN2 ; TRIM32
0.925 0.160 9 116699201 missense variant G/A snv 8.0E-06 4
rs11780883 8 83834281 intergenic variant G/A;T snv 0.43 1
rs118192177
RYR1
0.851 0.160 19 38496283 missense variant C/G;T snv 2.0E-05 6
rs1198364572
TTN ; TTN-AS1
2 178671132 frameshift variant -/T delins 1
rs121434589
MYH2 ; MYHAS
0.851 0.200 17 10535137 missense variant C/T snv 8
rs1215029143
IKBKG
1.000 0.040 X 154558608 missense variant G/A;T snv 2
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 25
rs121908192
NOXO1 ; GFER
0.925 0.280 16 1985991 missense variant G/A snv 2.8E-05 3.5E-05 3