Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1557045296
SLC6A8
1.000 X 153693971 missense variant C/T snv 4
rs1057519334
NPR2
0.925 0.040 9 35802550 frameshift variant C/- del 7
rs1561964103
TFAP2B
0.882 0.080 6 50836108 frameshift variant G/- delins 7
rs1558373252
LINC01248 ; SOX11
0.790 0.120 2 5693013 frameshift variant T/- delins 19
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 15
rs1135401744
KYNU
0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 14
rs1553525325
SCN1A-AS1 ; LOC102724058 ; SCN1A
0.807 0.120 2 166002716 missense variant A/T snv 9
rs793888541
TFAP2A-AS2 ; TFAP2A
0.807 0.120 6 10404631 missense variant A/T snv 7
rs886039909
HSPG2
0.882 0.120 1 21864095 splice region variant C/T snv 6
rs1555380716
SLC12A6
0.882 0.120 15 34255385 frameshift variant -/C delins 5
rs121918494
FGFR2
0.790 0.160 10 121517363 missense variant G/C snv 25
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv 14
rs121908425
EVC ; CRMP1
0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 14
rs112795301
FOXP1
0.776 0.160 3 70972634 stop gained G/A snv 13
rs1554199368
NSD1
0.827 0.160 5 177256956 missense variant C/T snv 12
rs753317536
EVC
0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06 12
rs397507539
PTPN11
0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06 8
rs397507540
PTPN11
0.851 0.160 12 112489048 missense variant C/A;T snv 8
rs1554196416
IRAK1BP1 ; PHIP
0.851 0.200 6 78958551 stop gained G/A snv 15
rs1554110735
TFAP2A
0.776 0.200 6 10398693 frameshift variant TT/- delins 13
rs1555350397
OTX2
0.827 0.200 14 56804268 frameshift variant ACA/CC delins 9
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv 17
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv 17