Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 9
rs374993554
TAF6
0.925 7 100113899 missense variant A/G;T snv 3.2E-05 3
rs1553200431
COL11A1
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 8
rs773722162
CELSR2
0.882 0.120 1 109272915 inframe insertion -/AGAAGAGGAGGA delins 5.2E-05 4.2E-05 5
rs369634007
TMEM87B
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05 10
rs397507542
PTPN11
0.790 0.320 12 112489069 missense variant G/T snv 9
rs1560092224
ZBTB20
0.925 0.040 3 114339276 missense variant T/A snv 5
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs121434616
CUL4B
0.925 0.080 X 120544179 stop gained G/A snv 6
rs878853165
HOOK2 ; MAST1
0.882 0.200 19 12843558 missense variant C/T snv 6
rs786205567
IFT122
0.925 0.120 3 129500070 splice donor variant T/C snv 5
rs1057519521
EBF3
0.851 0.120 10 129963375 frameshift variant TCTC/- del 8
rs1135402758
NUP214
1.000 9 131199023 intron variant T/- delins 5
rs904200599
TASP1
1.000 20 13534116 missense variant G/A snv 3
rs1555103652
GRIN2B
0.882 0.240 12 13569973 missense variant A/C snv 11
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv 11
rs1057518849
EHMT1
0.925 0.080 9 137800985 splice donor variant G/A;C snv 4.0E-06 4
rs886041097
NAA15
0.882 0.160 4 139386152 stop gained C/G snv 9
rs531630376
PCDH12
1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06 4
rs1135402760
BRSK2
0.851 0.160 11 1451405 frameshift variant AG/- delins 6
rs782661984
POLR3GL
0.925 0.040 1 145974824 splice acceptor variant G/A snv 2.3E-05 1.4E-05 4
rs1553763618
POLR3GL
0.925 0.040 1 145977482 splice acceptor variant G/A snv 4
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 43
rs1557045296
SLC6A8
1.000 X 153693971 missense variant C/T snv 4