Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs749621890
EXTL3
0.851 0.040 8 28717012 missense variant C/G;T snv 4.0E-06; 4.0E-06 7
rs1057518967
COL1A2
1.000 0.040 7 94423102 missense variant G/A snv 2
rs515726157
TRPV4
1.000 0.040 12 109792704 missense variant T/C snv 2
rs515726166
TRPV4
1.000 0.040 12 109784362 frameshift variant TCATTCTTGCCCGGGTC/- delins 2
rs1209546147
COL2A1 ; LOC105369752
1.000 0.040 12 47980597 missense variant C/T snv 1
rs515726153
TRPV4
1.000 0.040 12 109796638 missense variant T/C snv 1
rs515726154
TRPV4
1.000 0.040 12 109794406 inframe deletion AAG/- delins 1
rs515726155
TRPV4
1.000 0.040 12 109793945 inframe insertion -/GGA delins 1
rs515726169
TRPV4
1.000 0.040 12 109800754 missense variant C/G snv 1
rs751994699
ALPL
1.000 0.040 1 21563170 frameshift variant GG/- delins 4.0E-06 2.1E-05 1
rs369634007
TMEM87B
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05 10
rs387906904
TRPV4
0.851 0.080 12 109803009 missense variant G/A snv 5
rs759549373
DYNC2H1
0.925 0.080 11 103253342 missense variant G/A;T snv 6.0E-05; 4.0E-06 4
rs886043613
FGFR3
0.925 0.080 4 1801519 missense variant C/T snv 4
rs121912632
TRPV4
0.882 0.080 12 109792407 missense variant C/T snv 3
rs387906902
TRPV4
0.925 0.080 12 109793560 missense variant G/C;T snv 4.0E-06 3
rs886044555
COL2A1
0.925 0.080 12 47985772 missense variant C/T snv 3
rs1057516230
ALPL
0.925 0.080 1 21554124 frameshift variant AACT/- delins 2
rs116571438
TRPV4
0.925 0.080 12 109788483 missense variant G/A;T snv 8.0E-06 2
rs121912634
TRPV4
0.925 0.080 12 109798768 missense variant T/C snv 2
rs121912635
TRPV4
0.925 0.080 12 109788462 missense variant C/A snv 2
rs267607150
TRPV4
0.925 0.080 12 109792671 missense variant T/C snv 2
rs387906324
TRPV4
0.925 0.080 12 109808308 missense variant C/T snv 2
rs515726159
TRPV4
0.925 0.080 12 109792689 missense variant A/G snv 2
rs515726160
TRPV4
0.925 0.080 12 109792678 missense variant C/A snv 2