Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 45
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 15
rs778360818
PLOD2
0.851 0.120 3 146079255 missense variant C/A snv 4.0E-06 1.4E-05 9
rs780770356
PLOD2 ; LNCSRLR
0.851 0.120 3 146071125 stop gained G/A snv 9
rs875989883
PTCHD1-AS ; PHEX
0.851 0.280 X 22219070 missense variant G/A;C snv 9
rs1260978141
DYNC2H1
1.000 0.120 11 103125293 stop gained C/T snv 4.5E-06 8
rs1057516045
LBR
0.925 0.160 1 225403404 stop gained G/A snv 1.6E-05 8
rs1565311145
DYNC2H1
0.882 0.120 11 103116677 stop gained T/A snv 7
rs767846762
DYNC2H1
0.882 0.120 11 103176241 frameshift variant AA/- delins 1.0E-05 7
rs376892534
DYNC2H1
0.925 0.120 11 103184880 intron variant G/A snv 8.1E-06 6
rs1565868973
TRPV4
1.000 0.120 12 109796650 missense variant A/T snv 6