Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs118192170
RYR1
0.882 0.120 19 38584989 missense variant T/A;C snv 6
rs137853306
TPM2
0.882 0.080 9 35689265 missense variant C/T snv 6
rs1373863123
ACTB
1.000 0.080 7 5529540 missense variant G/A snv 4
rs778022582
KLHL40
0.925 0.080 3 42688963 missense variant A/C;G snv 9.5E-05; 1.2E-05 4
rs201553266
NEB
0.882 0.080 2 151551738 splice region variant C/T snv 2.8E-05 7.0E-06 4
rs104894129
TPM2
0.851 0.120 9 35685672 missense variant C/T snv 4
rs121964852
TPM3
0.851 0.080 1 154172971 missense variant C/T snv 4
rs199474714
TPM3
0.925 0.080 1 154173113 missense variant C/T snv 4
rs755531536
NEB
0.925 0.080 2 151694370 frameshift variant C/- del 7.0E-06 3
rs769345284
NEB
0.882 0.280 2 151537898 stop gained G/A snv 3.2E-05 3
rs397516364
TPM1
0.925 0.080 15 63042852 missense variant T/G snv 3
rs80358247
TPM3
0.882 0.080 1 154191993 missense variant A/C snv 4.0E-06 3
rs121909520
ACTA1
0.925 0.080 1 229432660 missense variant T/C snv 2
rs397515470
ACTB
0.925 0.280 7 5529175 missense variant C/T snv 2
rs80358250
CFL2
0.925 0.080 14 34713462 missense variant C/T snv 2
rs730882235
KLHL41
0.925 0.080 2 169510415 frameshift variant A/- delins 2
rs191579691
NEB
0.925 0.080 2 151561212 missense variant C/A;T snv 5.9E-05; 8.4E-06 2
rs778593702
NEB
0.925 0.080 2 151729614 splice donor variant C/T snv 8.0E-06 2
rs780022652
NEB
0.925 0.080 2 151674476 splice donor variant C/A;T snv 1.6E-05; 8.0E-06 2
rs786204430
NEB
0.925 0.080 2 151684829 frameshift variant A/- del 7.0E-06 2
rs928945364
NEB
0.925 0.080 2 151617381 stop gained G/A snv 7.0E-06 2
rs1257495033
NEB ; RIF1
0.925 0.080 2 151496977 frameshift variant -/ATCT delins 4.9E-06; 4.9E-06 1.4E-05 2
rs1344099907
NEB ; RIF1
0.925 0.080 2 151497028 splice acceptor variant -/AACA;ACA delins 2
rs1458048713
NEB ; RIF1
0.925 0.080 2 151499299 stop gained G/A;T snv 7.3E-06; 3.6E-05 2
rs760935667
NEB ; RIF1
0.925 0.080 2 151519759 stop gained G/A snv 8.0E-06 7.0E-06 2