Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057521721
GRIA3
0.851 0.200 X 123428020 missense variant G/A snv 5
rs869312865
GRIN1 ; LOC105376328
0.827 0.160 9 137156676 missense variant G/A;C snv 5
rs1557006903
HUWE1
0.851 0.280 X 53615815 missense variant C/T snv 5
rs869312873
NALCN
0.925 0.200 13 101089846 splice region variant C/T snv 7.0E-06 5
rs369691608
ZNF142 ; BCS1L
1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06 5
rs122445099
ATRX
0.827 0.400 X 77520832 stop gained G/A 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
rs797045140
IQSEC2
0.827 0.200 X 53238308 splice region variant TG/- delins 6
rs863225264
MTOR
0.827 0.240 1 11130747 missense variant C/T snv 6
rs878853325
PPT1
0.851 0.240 1 40089414 frameshift variant C/- delins 6
rs1553630279
CTNNB1
0.807 0.160 3 41225049 stop gained C/T 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
rs886041876
HUWE1
0.851 0.280 X 53551078 missense variant G/A snv 7
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv 7
rs1057518934
HERC2
0.851 0.240 15 28211095 frameshift variant G/- delins 8
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 9
rs1325394060
HUWE1
0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 9
rs483352897
NAGLU
0.882 0.280 17 42537517 frameshift variant CGGCCAGGAG/- delins 1.2E-05 2.8E-05 9
rs796051881
PEX5
0.807 0.440 12 7202274 frameshift variant -/A delins 9
rs386834034
POMGNT1 ; TSPAN1
0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05 9
rs74315442
CSTB
0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 10