Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518796
SYNGAP1
1.000 6 33443751 frameshift variant C/- delins 3
rs1557006873
HUWE1
0.925 0.280 X 53615786 missense variant A/C snv 4
rs1555307370
SOX5
0.882 0.160 12 23740986 stop gained G/A snv 4
rs1554817910
ZMIZ1
1.000 10 79216266 missense variant A/G snv 4
rs1131692228
ACTL6B
0.925 0.160 7 100646637 missense variant C/T snv 5
rs587779388
AP4B1 ; AP4B1-AS1
1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04 5
rs377619533
ASXL3
1.000 18 33743312 stop gained C/A;T snv 2.8E-05 5
rs1553632357
CTNNB1
0.882 0.120 3 41236421 stop gained G/T snv 5
rs1556913180
HUWE1
0.882 0.280 X 53536488 missense variant T/C snv 5
rs1557006903
HUWE1
0.851 0.280 X 53615815 missense variant C/T snv 5
rs773171451
KCNQ2 ; LOC105372724
0.882 0.040 20 63413535 missense variant G/A;T snv 8.0E-06 5
rs375761808
ARID1A
0.925 0.160 1 26775673 missense variant A/G;T snv 4.0E-06 6
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
rs1556912828
HUWE1
0.925 0.280 X 53536209 missense variant G/C snv 6
rs1556913268
HUWE1
0.851 0.240 X 53536600 missense variant T/A snv 6
rs782393002
HUWE1
0.882 0.280 X 53549413 missense variant A/C;G snv 1.1E-05 6
rs879253767
SCN2A
0.882 0.080 2 165313738 frameshift variant T/- delins 6
rs1557106484
ATRX
X 77633315 missense variant C/A snv 7
rs1556913258
HUWE1
0.851 0.280 X 53536580 missense variant G/C snv 7
rs1556978515
HUWE1
0.851 0.280 X 53591113 missense variant T/C snv 7
rs1557024919
HUWE1
0.925 0.240 X 53634235 splice donor variant C/G snv 7
rs1557036757
HUWE1
0.925 0.240 X 53647375 missense variant G/A snv 7