Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
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
rs1557006903
HUWE1
0.851 0.280 X 53615815 missense variant C/T snv 5
rs1556910184
HUWE1
0.882 0.240 X 53534615 missense variant C/G snv 4
rs797045140
IQSEC2
0.827 0.200 X 53238308 splice region variant TG/- delins 6
rs869312685
ITPR1
0.807 0.240 3 4815135 missense variant G/A;C snv 11
rs886041300
KCNH1
1.000 0.160 1 210920032 missense variant C/T snv 3
rs387906739
LOC107984661 ; DYNC1H1
0.882 0.200 14 102039416 missense variant A/C snv 3
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 23
rs63485860
MECP2
1.000 0.160 X 154031211 missense variant C/G;T snv 2.2E-05 1
rs1223073957
MED25
0.827 0.240 19 49835897 frameshift variant C/- delins 1.2E-05 1.4E-05 12
rs776291104
MED25
0.827 0.240 19 49829816 missense variant C/T snv 8.7E-06 12
rs794729668
MED25 ; FUZ
0.925 0.160 19 49818457 missense variant A/G snv 2
rs1554150607
MEF2C
0.925 0.160 5 88823786 start lost C/G snv 2
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs863225264
MTOR
0.827 0.240 1 11130747 missense variant C/T snv 6
rs753520553
NAGLU
0.851 0.280 17 42537433 missense variant A/G snv 3.2E-05 2.1E-05 10
rs483352897
NAGLU
0.882 0.280 17 42537517 frameshift variant CGGCCAGGAG/- delins 1.2E-05 2.8E-05 9
rs869312873
NALCN
0.925 0.200 13 101089846 splice region variant C/T snv 7.0E-06 5
rs796051881
PEX5
0.807 0.440 12 7202274 frameshift variant -/A delins 9
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60