Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs1064797102
OTUD6B-AS1 ; OTUD6B
0.827 0.120 8 91071136 splice acceptor variant A/G snv 15
rs121908425
EVC ; CRMP1
0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 14
rs778139192
KIF7 ; TICRR
0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05 14
rs753317536
EVC
0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06 12
rs780261665
COL7A1
0.827 0.200 3 48590258 stop gained G/A snv 2.0E-05 1.4E-05 9
rs767978562
FREM2
0.790 0.320 13 38851093 stop gained C/T snv 8.0E-06 7.0E-06 8
rs199821421
CREBBP
0.827 0.160 16 3728723 stop gained G/A;T snv 5.2E-05 6
rs886037856
BHLHA9
0.882 0.080 17 1270783 missense variant GA/TT mnv 4
rs1057518863
COL7A1
0.925 0.120 3 48567190 missense variant C/A;T snv 4