Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs74315304
CTSK
0.925 0.120 1 150799228 missense variant G/A;T snv 4.0E-06; 4.0E-06 3
rs1057516230
ALPL
0.925 0.080 1 21554124 frameshift variant AACT/- delins 2
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
rs864309531
SMARCAL1
0.882 0.400 2 216423668 stop gained G/T snv 5
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 45
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv 30
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 30
rs78311289
FGFR3
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 25
rs587777512
LRBA ; MAB21L2
0.827 0.320 4 150583180 missense variant C/G;T snv 7
rs886043613
FGFR3
0.925 0.080 4 1801519 missense variant C/T snv 4
rs774568856
PGM3
0.882 0.200 6 83174481 missense variant A/G snv 1.7E-05 7.0E-06 4
rs1057518967
COL1A2
1.000 0.040 7 94423102 missense variant G/A snv 2
rs749621890
EXTL3
0.851 0.040 8 28717012 missense variant C/G;T snv 4.0E-06; 4.0E-06 7
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 18
rs886041093
EHMT1
0.827 0.280 9 137815998 missense variant G/A snv 7
rs759549373
DYNC2H1
0.925 0.080 11 103253342 missense variant G/A;T snv 6.0E-05; 4.0E-06 4
rs181011657
DYNC2H1
0.882 0.120 11 103257719 stop gained C/T snv 6.8E-05 1.4E-04 3
rs369091875
DCHS1
0.925 0.240 11 6633485 missense variant C/G;T snv 1.1E-03 2
rs121912633
TRPV4
0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06 10
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
rs267607148
TRPV4
0.882 0.120 12 109800639 missense variant C/T snv 4