Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins 15
rs1555103652
GRIN2B
0.882 0.240 12 13569973 missense variant A/C snv 11
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv 11
rs372392424
PIGG
0.882 0.240 4 523849 missense variant C/T snv 6.7E-05 7.7E-05 8
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
rs1556913268
HUWE1
0.851 0.240 X 53536600 missense variant T/A snv 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
rs1057524820
SCN8A
0.776 0.280 12 51765746 missense variant G/A;T snv 33
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv 19
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins 19
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv 13
rs759317757
OTUD6B
0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 12
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
rs886041876
HUWE1
0.851 0.280 X 53551078 missense variant G/A snv 7
rs1556912828
HUWE1
0.925 0.280 X 53536209 missense variant G/C snv 6
rs782393002
HUWE1
0.882 0.280 X 53549413 missense variant A/C;G snv 1.1E-05 6
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
rs1557006873
HUWE1
0.925 0.280 X 53615786 missense variant A/C snv 4