Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs386834055
VPS13B
0.925 0.320 8 99853469 frameshift variant -/A delins 9
rs796051881
PEX5
0.807 0.440 12 7202274 frameshift variant -/A delins 9
rs797044523
LOC105372797 ; DYRK1A
0.882 21 37480756 frameshift variant -/A delins 9
rs724159954
DYRK1A ; LOC105372797
21 37490353 frameshift variant -/A delins 6
rs761964407
SERAC1
1.000 6 158114826 frameshift variant -/ATAG delins 1.5E-04 1.5E-04 4
rs1057518821
SLC2A1
1.000 1 42930671 frameshift variant -/C delins 5
rs1553370260
MYCN ; MYCNOS
0.925 0.320 2 15942129 frameshift variant -/CGCT delins 4
rs724159952
LOC105372797 ; DYRK1A
21 37490451 frameshift variant -/G delins 6
rs724159956
DYRK1A
21 37496249 frameshift variant -/G delins 6
rs1057519012
EP300
1.000 22 41147864 frameshift variant -/G delins 2
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 46
rs869312704
TBR1
0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 10
rs786200952
KAT6A
0.851 0.120 8 41934340 frameshift variant -/T delins 13
rs730882198
SPART
0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05 6
rs1085307132
SCRIB ; PUF60
0.882 0.160 8 143817668 frameshift variant -/TTTT delins 5
rs886039809
KIAA0586
0.807 0.480 14 58498824 frameshift variant A/- del 11
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
rs372292910
PCDHB4
1.000 0.040 5 141122905 frameshift variant A/-;AA delins 1.7E-04 3
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs1555103652
GRIN2B
0.882 0.240 12 13569973 missense variant A/C snv 11
rs772887102
RARS2
0.807 0.200 6 87548623 missense variant A/C snv 2.2E-04 2.8E-05 9
rs1060499740
CINP
14 102348559 stop lost A/C snv 3