Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs1557612048
ARID1A
0.807 0.200 1 26767868 missense variant T/C snv 11
rs386834034
POMGNT1 ; TSPAN1
0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05 9
rs1135401746
GNB1
0.827 0.400 1 1806512 missense variant C/G snv 7
rs749895856
CPT2
0.925 0.160 1 53211110 missense variant A/G;T snv 1.2E-05; 4.0E-05 7
rs878853325
PPT1
0.851 0.240 1 40089414 frameshift variant C/- delins 6
rs869312671
MTOR ; MTOR-AS1
0.882 0.160 1 11144735 missense variant C/T snv 5
rs1558373252
LINC01248 ; SOX11
0.790 0.120 2 5693013 frameshift variant T/- delins 19
rs587778779
CYP27A1
0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 14
rs1131692229
KIDINS220
0.851 0.120 2 8730956 frameshift variant GT/- delins 11
rs1553511224
TBR1
0.882 0.080 2 161423825 frameshift variant -/C delins 10
rs672601368
KIF1A
0.827 0.160 2 240785062 missense variant C/G;T snv 10
rs1553525325
SCN1A-AS1 ; LOC102724058 ; SCN1A
0.807 0.120 2 166002716 missense variant A/T snv 9
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 8
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv 7
rs145999922
SLC19A3
0.882 0.040 2 227699378 missense variant A/G snv 4.4E-05 4.2E-05 4
rs775835429
SLC19A3
0.925 0.040 2 227702236 frameshift variant -/TC delins 2.4E-05 2.1E-05 4
rs869312664
SCN2A
0.925 0.160 2 165386920 stop gained G/A;T snv 4
rs878853163
SATB2
0.925 0.200 2 199323850 stop gained T/A;C snv 4
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs1057519925
PIK3CA
0.683 0.560 3 179210291 missense variant G/A;C snv 23