Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 22
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 36
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv 13
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
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 35
rs122445099
ATRX
0.827 0.400 X 77520832 stop gained G/A snv 6
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
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs1014959895
PRMT7
0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05 16
rs1251713297
PRMT7
0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06 15
rs1325394060
HUWE1
0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 9
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 23
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv 13
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
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant 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
rs886041876
HUWE1
0.851 0.280 X 53551078 missense variant G/A snv 7