Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555789140
OVOL2 ; MGME1 ; SNX5
0.882 0.120 20 17970217 frameshift variant C/- delins 4
rs1554699491
AGTPBP1
0.763 0.280 9 85596450 splice acceptor variant C/A snv 23
rs1557106484
ATRX
X 77633315 missense variant C/A snv 7
rs724159955
DYRK1A
1.000 21 37512002 missense variant C/A snv 6
rs1553761113
ATR
0.851 0.240 3 142507967 missense variant C/A snv 5
rs948326794
ASNS ; CZ1P-ASNS
1.000 7 97854653 stop gained C/A;G snv 1.4E-05 2
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs797044519
DYRK1A
0.925 21 37478285 stop gained C/A;G;T snv 9
rs76216585
POC1B
0.807 0.160 12 89492071 stop gained C/A;G;T snv 8.5E-06; 2.7E-04 5
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs181109321
TTPA
0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 15
rs863225045
ALDH18A1
0.790 0.360 10 95637327 missense variant C/A;T snv 15
rs748106387
SMARCAL1
0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05 9
rs753242774
MIR1226 ; DHX30
0.882 0.120 3 47848237 missense variant C/A;T snv 9
rs571640983
MFSD2A
0.925 1 39967913 missense variant C/A;T snv 4.0E-06; 8.0E-06 4
rs367962377
MYCN
1.000 0.320 2 15945716 stop gained C/A;T snv 8.0E-06 2.1E-05 2
rs886039814
WDR19
0.807 0.200 4 39218060 missense variant C/G snv 13
rs147484110
CSTB
0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 11
rs387907196
EXOSC3
0.807 0.080 9 37784953 missense variant C/G snv 2.0E-05 8
rs1557024919
HUWE1
0.925 0.240 X 53634235 splice donor variant C/G snv 7
rs672601366
KIF1A
0.851 0.120 2 240786339 missense variant C/G snv 6
rs730882210
MATN4
0.827 0.280 20 45304356 missense variant C/G snv 6
rs1135401758
TUBB2B
0.882 0.080 6 3227511 missense variant C/G snv 4
rs1558519731
BCL11A
0.925 2 60546204 missense variant C/G snv 4
rs1554777480
STXBP1
9 127666235 missense variant C/G snv 2