Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1556913258
HUWE1
0.851 0.280 X 53536580 missense variant G/C snv 7
rs1556913268
HUWE1
0.851 0.240 X 53536600 missense variant T/A snv 6
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv 13
rs1556978515
HUWE1
0.851 0.280 X 53591113 missense variant T/C snv 7
rs1557006903
HUWE1
0.851 0.280 X 53615815 missense variant C/T snv 5
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
rs200115000
CAMK2B
1.000 0.160 7 44220165 missense variant C/A;G;T snv 2.6E-04; 5.8E-05 2
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs201968272
DDX11
0.925 0.160 12 31089147 missense variant G/A snv 3
rs202153551
CDKL5 ; RS1
1.000 0.160 X 18650466 stop gained C/T snv 2.0E-04 6.6E-05 1
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 23
rs369691608
ZNF142 ; BCS1L
1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06 5
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25
rs386834034
POMGNT1 ; TSPAN1
0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05 9
rs387906739
LOC107984661 ; DYNC1H1
0.882 0.200 14 102039416 missense variant A/C snv 3
rs387906740
DYNC1H1
0.882 0.200 14 102002546 missense variant G/A snv 3
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 36
rs397514627
CAMK2G
0.882 0.160 10 73842486 missense variant C/A;G snv 5
rs45514095
TSC2
0.925 0.160 16 2085323 splice donor variant G/A snv 2
rs483352897
NAGLU
0.882 0.280 17 42537517 frameshift variant CGGCCAGGAG/- delins 1.2E-05 2.8E-05 9
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs63485860
MECP2
1.000 0.160 X 154031211 missense variant C/G;T snv 2.2E-05 1
rs727505397
CASK
0.882 0.240 X 41553782 missense variant C/T snv 3
rs730882202
CACNA1G
0.925 0.160 17 50571953 inframe deletion TTC/- delins 4