Source: CLINVAR ×
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 36
rs267607144
TRPV4
0.716 0.360 12 109800665 missense variant C/T snv 17
rs387906905
TRPV4
0.882 0.120 12 109798819 missense variant C/T snv 9
rs397516248
MYH7 ; MHRT
0.851 0.200 14 23415153 missense variant C/T snv 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
rs77975504
TRPV4
0.827 0.280 12 109792695 missense variant C/T snv 5
rs267607490
DES
0.925 0.160 2 219425734 missense variant C/T snv 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
rs121912633
TRPV4
0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06 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
rs387906904
TRPV4
0.851 0.080 12 109803009 missense variant G/A 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
rs727503422
SGCD
0.925 0.200 5 156508703 splice donor variant G/A snv 3
rs387906902
TRPV4
0.925 0.080 12 109793560 missense variant G/C;T snv 4.0E-06 3
rs387906906
TRPV4
0.925 0.120 12 109786827 missense variant G/A snv 3
rs387906907
TRPV4
0.925 0.120 12 109800645 missense variant T/C snv 3
rs397514474
TRPV4
0.925 0.120 12 109814565 missense variant C/A snv 3