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: rs1554122123
rs1554122123
CAMK2A
5 0.925 0.040 5 150251979 splice donor variant -/A delins 0.700 1.000 1 2017 2017
dbSNP: rs527656756
rs527656756
HAAO ; MTA3
21 0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05 0.700 1.000 1 2017 2017
dbSNP: rs797044523
rs797044523
DYRK1A ; LOC105372797
9 0.882 21 37480756 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs879255586
rs879255586
CLCN4
1 X 10213979 frameshift variant -/A delins 0.700 1.000 1 2018 2018
dbSNP: rs1057519393
rs1057519393
KDM5C
2 1.000 0.080 X 53197768 splice donor variant -/A delins 0.700 0
dbSNP: rs1135401766
rs1135401766
MED13L
2 1.000 12 116005938 frameshift variant -/A delins 0.700 0
dbSNP: rs1163944538
rs1163944538
TMEM94
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1555974716
rs1555974716
ZNF711
2 1.000 0.200 X 85270774 frameshift variant -/A delins 0.700 0
dbSNP: rs549625604
rs549625604
BBS10
13 0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 0.700 0
dbSNP: rs724159954
rs724159954
DYRK1A ; LOC105372797
6 21 37490353 frameshift variant -/A delins 0.700 0
dbSNP: rs730882244
rs730882244
FAM177A1
3 1.000 14 35077175 frameshift variant -/A delins 0.700 0
dbSNP: rs1568135082
rs1568135082
ZNF407
2 18 74633832 inframe insertion -/AGT delins 0.700 0
dbSNP: rs1555907653
rs1555907653
MSL3
1 X 11772674 frameshift variant -/C delins 0.700 0
dbSNP: rs1559855453
rs1559855453
MED12L
1 3 151188468 frameshift variant -/C delins 0.700 0
dbSNP: rs776969714
rs776969714
SEPSECS
34 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
dbSNP: rs1554649366
rs1554649366
NFIB
3 1.000 9 14150191 frameshift variant -/CA delins 0.700 0
dbSNP: rs1057519398
rs1057519398
SMC1A
2 1.000 0.080 X 53409218 frameshift variant -/G ins 0.700 0
dbSNP: rs1057519404
rs1057519404
MECP2
2 1.000 0.080 X 154030716 frameshift variant -/G delins 0.700 0
dbSNP: rs1553283831
rs1553283831
HNRNPU
1 1 244863711 frameshift variant -/G delins 0.700 0
dbSNP: rs1554129040
rs1554129040
PURA
1 5 140114334 frameshift variant -/G delins 0.700 0
dbSNP: rs1555565492
rs1555565492
RAI1
18 0.776 0.160 17 17795417 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: rs1567878511
rs1567878511
CHD3
1 17 7910893 frameshift variant -/GAAC delins 0.700 0
dbSNP: rs1057518799
rs1057518799
POGZ
7 0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 0.700 0