Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs796051881
rs796051881
PEX5
9 0.807 0.440 12 7202274 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs797044523
rs797044523
DYRK1A ; LOC105372797
9 0.882 21 37480756 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs386834055
rs386834055
VPS13B
9 0.925 0.320 8 99853469 frameshift variant -/A delins 0.700 0
dbSNP: rs724159954
rs724159954
DYRK1A ; LOC105372797
6 21 37490353 frameshift variant -/A delins 0.700 0
dbSNP: rs761964407
rs761964407
SERAC1
4 1.000 6 158114826 frameshift variant -/ATAG delins 1.5E-04 1.5E-04 0.700 0
dbSNP: rs1057518821
rs1057518821
SLC2A1
5 1.000 1 42930671 frameshift variant -/C delins 0.700 0
dbSNP: rs1553370260
rs1553370260
MYCN ; MYCNOS
4 0.925 0.320 2 15942129 frameshift variant -/CGCT delins 0.700 0
dbSNP: rs1057519012
rs1057519012
EP300
2 1.000 22 41147864 frameshift variant -/G delins 0.700 0
dbSNP: rs724159952
rs724159952
DYRK1A ; LOC105372797
6 21 37490451 frameshift variant -/G delins 0.700 0
dbSNP: rs724159956
rs724159956
DYRK1A
6 21 37496249 frameshift variant -/G delins 0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
46 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
dbSNP: rs869312704
rs869312704
TBR1
10 0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 0.700 0
dbSNP: rs786200952
rs786200952
KAT6A
13 0.851 0.120 8 41934340 frameshift variant -/T delins 0.700 1.000 1 2015 2015
dbSNP: rs730882198
rs730882198
SPART
6 0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05 0.700 0
dbSNP: rs1085307132
rs1085307132
PUF60 ; SCRIB
5 0.882 0.160 8 143817668 frameshift variant -/TTTT delins 0.700 0
dbSNP: rs797044521
rs797044521
DYRK1A ; LOC105372797
8 0.925 21 37480768 frameshift variant A/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1057518939
rs1057518939
VPS13B
9 1.000 0.040 8 99511424 frameshift variant A/- del 0.700 0
dbSNP: rs886039809
rs886039809
KIAA0586
11 0.807 0.480 14 58498824 frameshift variant A/- del 0.700 0
dbSNP: rs372292910
rs372292910
PCDHB4
3 1.000 0.040 5 141122905 frameshift variant A/-;AA delins 1.7E-04 0.700 0
dbSNP: rs1064795104
rs1064795104
EXOC6B
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs1060499740
rs1060499740
CINP
3 14 102348559 stop lost A/C snv 0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
26 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
dbSNP: rs1555103652
rs1555103652
GRIN2B
11 0.882 0.240 12 13569973 missense variant A/C snv 0.700 0
dbSNP: rs772887102
rs772887102
RARS2
9 0.807 0.200 6 87548623 missense variant A/C snv 2.2E-04 2.8E-05 0.700 0
dbSNP: rs794727931
rs794727931
ALG8
19 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0