Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs527656756
MTA3 ; HAAO
0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05 21
rs797044523
LOC105372797 ; DYRK1A
0.882 21 37480756 frameshift variant -/A delins 9
rs1563765580
RUNX1T1
8 92017274 frameshift variant -/A ins 1
rs1085307139
SCRIB ; PUF60
0.925 0.040 8 143817380 frameshift variant -/C delins 5
rs1057519369
NF1
0.790 0.280 17 31340532 frameshift variant -/G delins 13
rs1553538488
OBSL1 ; INHA
1.000 0.200 2 219570542 frameshift variant -/G delins 2
rs1567280099
ANKS3
16 4697038 frameshift variant -/G delins 1
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 28
rs1057518799
POGZ
0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 7
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins 19
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs1057518939
VPS13B
1.000 0.040 8 99511424 frameshift variant A/- del 9
rs797044521
LOC105372797 ; DYRK1A
0.925 21 37480768 frameshift variant A/- delins 8
rs782144677
LINC00624 ; CHD1L
1 147285398 frameshift variant A/- del 2.8E-05 2.1E-05 1
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs397507517
PTPN11
0.827 0.160 12 112450497 missense variant A/C snv 8
rs1558053119
EDEM3
1 184717581 missense variant A/C snv 1
rs1560814874
SMARCA5
4 143528006 missense variant A/C snv 1
rs1562456317
USP45 ; TSTD3
6 99508705 missense variant A/C snv 1
rs540351799
PTPRU
1 29325243 missense variant A/C snv 1.2E-05 1.4E-05 1
rs113993993
SBDS
0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03 9
rs397517150
SOS1
0.827 0.160 2 39023118 missense variant A/C;G snv 6
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv 15
rs121918461
PTPN11
0.827 0.240 12 112450362 missense variant A/C;G;T snv 8