Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057516030
LOC105372797 ; DYRK1A
0.807 0.280 21 37480785 stop gained -/A delins 14
rs1555380716
SLC12A6
0.882 0.120 15 34255385 frameshift variant -/C delins 5
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs121907922
ELP4 ; PAX6
0.742 0.320 11 31789935 stop gained T/A snv 12
rs1057519369
NF1
0.790 0.280 17 31340532 frameshift variant -/G delins 13
rs1553630457
TGFBR2
0.882 0.240 3 30674231 missense variant T/C snv 8
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs387906819
GATA6
0.882 0.120 18 22181517 missense variant G/A snv 6
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv 14
rs61752129
PEX26
0.776 0.240 22 18078405 frameshift variant C/-;CC delins 14
rs1057519942
PIK3CA
0.724 0.320 3 179203760 missense variant G/A snv 15
rs1213930919
TTN-AS1 ; TTN
0.882 0.120 2 178577785 stop gained G/A snv 9
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs587784105
NSD1
0.732 0.440 5 177235863 stop gained G/A snv 19
rs1559193213
SCN1A-AS1 ; SCN1A ; LOC102724058
0.807 0.160 2 166036149 frameshift variant -/G delins 11
rs1554236040
ARID1B
0.882 0.320 6 157201464 stop gained C/T snv 5
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv 8
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
rs1554496813
KMT2C
0.827 0.160 7 152177839 frameshift variant -/G delins 8
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17