Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 52
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 48
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del 33
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 30
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv 23
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv 18
rs1565706229
EED ; MIR6755
0.851 0.120 11 86277110 missense variant T/C snv 18
rs121918549
AAAS
0.882 0.080 12 53321423 stop gained G/A;T snv 4.0E-06; 1.8E-04 5
rs886039908
GPC3
0.925 0.360 X 133536175 frameshift variant A/- delins 5
rs748219743
UGT1A7 ; UGT1A1 ; UGT1A9 ; UGT1A6 ; UGT1A4 ; UGT1A3 ; UGT1A5 ; UGT1A10 ; UGT1A8
1.000 0.080 2 233760634 frameshift variant -/A delins 4