Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 45
rs1555386022
TRIP11
0.708 0.320 14 92003418 splice donor variant C/A snv 38
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv 30
rs587777512
LRBA ; MAB21L2
0.827 0.320 4 150583180 missense variant C/G;T snv 7
rs886041093
EHMT1
0.827 0.280 9 137815998 missense variant G/A snv 7
rs77975504
TRPV4
0.827 0.280 12 109792695 missense variant C/T snv 6
rs121912637
TRPV4
0.851 0.160 12 109784378 missense variant G/A;C snv 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
rs864309531
SMARCAL1
0.882 0.400 2 216423668 stop gained G/T snv 5
rs267607148
TRPV4
0.882 0.120 12 109800639 missense variant C/T snv 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
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
rs869312694
MAGEL2
0.925 0.120 15 23644535 stop gained C/A snv 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
rs1057518967
COL1A2
1.000 0.040 7 94423102 missense variant G/A snv 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
rs267607147
TRPV4
0.925 0.120 12 109784379 missense variant G/A;C snv 2
rs267607150
TRPV4
0.925 0.080 12 109792671 missense variant T/C snv 2