Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 36
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 35
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins 15
rs112795301
FOXP1
0.776 0.160 3 70972634 stop gained G/A snv 13
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv 13
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv 13
rs1554691658
PTCH1
0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins 11
rs1555103652
GRIN2B
0.882 0.240 12 13569973 missense variant A/C snv 11
rs869312685
ITPR1
0.807 0.240 3 4815135 missense variant G/A;C snv 11
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
rs796051881
PEX5
0.807 0.440 12 7202274 frameshift variant -/A delins 9
rs1057518934
HERC2
0.851 0.240 15 28211095 frameshift variant G/- delins 8
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv 7
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
rs122445099
ATRX
0.827 0.400 X 77520832 stop gained G/A snv 6