Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553630457
TGFBR2
0.882 0.240 3 30674231 missense variant T/C snv 8
rs1554110735
TFAP2A
0.776 0.200 6 10398693 frameshift variant TT/- delins 13
rs1554196416
IRAK1BP1 ; PHIP
0.851 0.200 6 78958551 stop gained G/A snv 15
rs1554236040
ARID1B
0.882 0.320 6 157201464 stop gained C/T snv 5
rs1554317931
GLI3
0.851 0.080 7 42045460 frameshift variant G/- delins 11
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs1554496813
KMT2C
0.827 0.160 7 152177839 frameshift variant -/G delins 8
rs1554846212
DUPD1 ; KAT6B
0.851 0.160 10 75030037 missense variant C/T snv 9
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1555380716
SLC12A6
0.882 0.120 15 34255385 frameshift variant -/C delins 5
rs1555932766
USP9X
0.882 0.080 X 41210540 stop gained C/T snv 9
rs1557194525
TAZ
1.000 0.120 X 154420961 frameshift variant C/- del 3
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs1559193213
SCN1A-AS1 ; SCN1A ; LOC102724058
0.807 0.160 2 166036149 frameshift variant -/G delins 11
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs1565706229
EED ; MIR6755
0.851 0.120 11 86277110 missense variant T/C snv 18
rs1566823361
FGF14
0.742 0.440 13 101726732 frameshift variant -/G delins 18
rs1569167586
POLR2F ; SOX10
0.851 0.160 22 37973687 frameshift variant AGTAG/- delins 9
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 18
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 15
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs369634007
TMEM87B
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05 10