Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs727503094
LRRC56 ; HRAS
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs267607144
TRPV4
0.716 0.360 12 109800665 missense variant C/T snv 17
rs121912633
TRPV4
0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06 10
rs387906905
TRPV4
0.882 0.120 12 109798819 missense variant C/T snv 10
rs104894351
HSPB8 ; LOC107984440
0.827 0.080 12 119187078 missense variant A/C;G snv 7
rs267607490
DES
0.925 0.160 2 219425734 missense variant C/T snv 6
rs397516248
MYH7 ; MHRT
0.851 0.200 14 23415153 missense variant C/T snv 6
rs77975504
TRPV4
0.827 0.280 12 109792695 missense variant C/T snv 6
rs207482230
TFG
0.882 0.080 3 100748182 missense variant C/T snv 4.0E-06 5
rs121912637
TRPV4
0.851 0.160 12 109784378 missense variant G/A;C snv 5
rs267607143
TRPV4
0.851 0.080 12 109798823 missense variant G/A snv 7.0E-06 5
rs267607146
TRPV4
0.851 0.080 12 109800666 missense variant G/A;T snv 7.0E-06 5
rs267607149
TRPV4
0.851 0.120 12 109784385 missense variant C/T snv 5
rs387906904
TRPV4
0.851 0.080 12 109803009 missense variant G/A snv 5
rs778022582
KLHL40
0.925 0.080 3 42688963 missense variant A/C;G snv 9.5E-05; 1.2E-05 4
rs267607581
LMNA
0.925 0.080 1 156137651 splice region variant C/G snv 4
rs367543052
MHRT ; MYH7
0.882 0.160 14 23415476 inframe deletion TCT/-;TCTTCT delins 4
rs200563280
RYR1
0.882 0.160 19 38496466 stop gained C/G;T snv 4.0E-06; 1.6E-04 4
rs267607145
TRPV4
0.882 0.080 12 109798820 missense variant G/A;T snv 4
rs267607148
TRPV4
0.882 0.120 12 109800639 missense variant C/T snv 4
rs150974575
DES
1.000 0.160 2 219423817 stop gained C/T snv 1.2E-05 3
rs121908334
LDB3
0.925 0.080 10 86687218 missense variant C/T snv 4.0E-06 3
rs57508089
LMNA
1.000 0.080 1 156136110 synonymous variant C/T snv 3
rs193922839
RYR1
0.925 0.120 19 38534775 missense variant G/A;C snv 1.6E-05; 4.0E-06 3