Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121908216
CACNA1A
0.882 0.200 19 13235702 missense variant C/T snv 7
rs886041093
EHMT1
0.827 0.280 9 137815998 missense variant G/A snv 7
rs371582179
GLB1
0.827 0.280 3 33014057 missense variant T/C snv 3.6E-05 6.3E-05 7
rs886041876
HUWE1
0.851 0.280 X 53551078 missense variant G/A snv 7
rs145465528
LAMA2
0.882 0.240 6 129143976 missense variant C/T snv 6.0E-05 9.1E-05 7
rs863225082
PPP2R5D ; MEA1
0.827 0.160 6 43007265 missense variant G/A snv 7
rs878853161
SLC2A1
0.851 0.240 1 42929977 frameshift variant AT/- del 7
rs879253745
ARID1B
0.925 0.240 6 157181040 frameshift variant AA/- delins 6
rs879253746
ARID1B
0.925 0.240 6 157200866 frameshift variant -/T delins 6
rs879253747
ARID1B
0.925 0.240 6 157167101 stop gained C/T snv 6
rs879253856
ARID1B
0.925 0.240 6 157110496 frameshift variant CCG/TCCGCAGCCACTCC delins 6
rs1135402760
BRSK2
0.851 0.160 11 1451405 frameshift variant AG/- delins 6
rs886039903
FGF12
0.807 0.200 3 192335434 missense variant C/T snv 6
rs878853165
HOOK2 ; MAST1
0.882 0.200 19 12843558 missense variant C/T snv 6
rs797045140
IQSEC2
0.827 0.200 X 53238308 splice region variant TG/- delins 6
rs773685207
MED13
0.851 0.200 17 61966645 stop gained G/A;C;T snv 4.3E-06; 4.3E-05 6
rs1554297905
RALA
0.882 0.160 7 39686740 missense variant G/A snv 6
rs56144125
TPP1
0.827 0.240 11 6617154 splice acceptor variant C/A;G;T snv 4.0E-04; 1.2E-05 6
rs139194636
WARS2
0.882 0.240 1 119033203 missense variant T/C snv 6.4E-05 2.3E-04 6
rs757600616
WARS2
0.882 0.240 1 119033279 stop gained G/A snv 1.2E-05 6
rs1060499626
ZMYND11
0.882 0.160 10 180034 stop gained C/T snv 6
rs869312696
ASXL3
0.882 0.160 18 33739086 stop gained C/A snv 5
rs878853164
KMT5B
1.000 0.160 11 68157849 stop gained C/A snv 4.0E-06 5
rs869312698
MEF2C
0.925 0.160 5 88804785 missense variant C/T snv 5
rs869312671
MTOR ; MTOR-AS1
0.882 0.160 1 11144735 missense variant C/T snv 5