Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1561875767
CUL7 ; KLC4
1.000 0.200 6 43041036 stop gained G/A snv 14
rs1057518939
VPS13B
1.000 0.040 8 99511424 frameshift variant A/- del 9
rs1559155800
OBSL1
1.000 0.200 2 219568150 missense variant C/T snv 7
rs1555548680
STAT5B
1.000 0.120 17 42216066 missense variant T/C snv 5
rs1561002040
LOC107984036 ; RAB33B
1.000 4 139454380 frameshift variant C/- delins 4
rs1565191262
FAM111B
1.000 0.080 11 59125559 frameshift variant T/- del 4
rs1057519451
NRXN3 ; LOC105370589
1.000 0.120 14 78709310 missense variant A/G snv 1.4E-05 2
rs121913115
FGFR3
1.000 0.120 4 1801928 missense variant A/G snv 2
rs137852552
SHOX
1.000 0.080 Y 641037 stop gained C/A;T snv 2
rs1553538488
OBSL1 ; INHA
1.000 0.200 2 219570542 frameshift variant -/G delins 2
rs531047390
NRXN3
1.000 0.120 14 78968349 splice region variant A/G snv 2.0E-04 2.1E-05 2
rs864309521
KLC4 ; CUL7
1.000 0.200 6 43043631 splice acceptor variant C/G snv 2
rs760929207
OBSL1
0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06 12
rs1561873941
CUL7
0.925 0.200 6 43040335 frameshift variant T/- del 10
rs386834061
VPS13B
0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05 10
rs1561881909
CUL7 ; KLC4
0.925 0.200 6 43044835 frameshift variant G/- delins 9
rs797044519
DYRK1A
0.925 21 37478285 stop gained C/A;G;T snv 9
rs797044522
DYRK1A
0.925 21 37496119 frameshift variant AGAT/- delins 9
rs797044524
LOC105372797 ; DYRK1A
0.925 21 37486513 missense variant A/T snv 9
rs797044525
DYRK1A ; LOC105372797
0.925 21 37490244 missense variant T/G snv 9
rs797044521
LOC105372797 ; DYRK1A
0.925 21 37480768 frameshift variant A/- delins 8
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv 8
rs886039900
AHDC1
0.925 0.320 1 27549887 frameshift variant C/- delins 8
rs1057518791
TRPS1
0.925 0.120 8 115604739 stop gained C/T snv 7
rs1057518799
POGZ
0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 7