Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 15
rs1564405163
GATA3
0.807 0.280 10 8073746 missense variant G/C snv 6
rs1569234334
KIF4A
0.851 0.200 X 70329420 missense variant G/T snv 5
rs1563406024
FZD3
0.851 0.240 8 28555799 frameshift variant -/A delins 4
rs1555454847
PKD1
0.882 0.240 16 2109266 inframe deletion CAC/- delins 4
rs606231357
EYA1
0.882 0.120 8 71271753 splice region variant C/T snv 3
rs1057518976
PKD1
1.000 0.120 16 2111382 missense variant T/C snv 3
rs1553927823
PKD2
0.925 0.240 4 88065804 frameshift variant TACG/- delins 3
rs770908659
MKKS
1.000 0.120 20 10412556 frameshift variant AG/- delins 8.0E-06 7.0E-06 2
rs121918187
UPK3A
1.000 0.120 22 45293214 missense variant G/A snv 1