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: rs1555682265
rs1555682265
DCC
5 0.851 0.160 18 52923796 frameshift variant TTTCTGG/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1057519408
rs1057519408
KMT2A
2 1.000 0.240 11 118499340 frameshift variant TTGT/- delins 0.700 0
dbSNP: rs1554639173
rs1554639173
NFIB
3 1.000 9 14120609 frameshift variant TTCGAGTTGAGATG/- delins 0.700 0
dbSNP: rs759317757
rs759317757
OTUD6B
12 0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 0.700 0
dbSNP: rs1447313633
rs1447313633
ZNF142
4 1.000 2 218649090 frameshift variant TT/- del 0.700 1.000 1 2019 2019
dbSNP: rs1057519400
rs1057519400
SYNGAP1
2 1.000 0.160 6 33440958 frameshift variant TT/- delins 0.700 0
dbSNP: rs1555741826
rs1555741826
PRR12
16 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
dbSNP: rs724159950
rs724159950
DYRK1A ; LOC105372797
6 1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins 0.700 0
dbSNP: rs1057519395
rs1057519395
SHANK3
2 1.000 0.080 22 50721861 frameshift variant TG/- delins 0.700 0
dbSNP: rs1555906781
rs1555906781
MSL3
1 X 11765622 frameshift variant TG/- delins 0.700 0
dbSNP: rs886041090
rs886041090
BRPF1
2 1.000 3 9739449 frameshift variant TG/- delins 0.700 0
dbSNP: rs587782991
rs587782991
PURA
6 0.882 0.080 5 140114991 inframe deletion TCT/- delins 0.700 0
dbSNP: rs587783000
rs587783000
PURA
5 0.925 0.080 5 140114444 inframe deletion TCG/- del 0.700 0
dbSNP: rs886040857
rs886040857
EIF2S3
7 0.882 0.240 X 24076757 frameshift variant TCAA/- delins 0.700 0
dbSNP: rs587782992
rs587782992
PURA
5 0.882 0.080 5 140114483 frameshift variant TC/-;TCTC delins 0.700 0
dbSNP: rs1554121872
rs1554121872
CAMK2A
7 0.882 0.040 5 150250270 missense variant T/G snv 0.700 1.000 1 2017 2017
dbSNP: rs797044525
rs797044525
DYRK1A ; LOC105372797
9 0.925 21 37490244 missense variant T/G snv 0.700 1.000 1 2015 2015
dbSNP: rs797045141
rs797045141
HERC1
5 0.882 0.160 15 63696341 splice acceptor variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs864309676
rs864309676
STX7
7 0.851 0.120 6 132472372 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs879255580
rs879255580
CLCN4
1 X 10206437 missense variant T/G snv 0.700 1.000 1 2018 2018
dbSNP: rs1085308048
rs1085308048
PTEN
6 0.851 0.320 10 87933175 stop gained T/G snv 0.700 0
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
22 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 0
dbSNP: rs1554709683
rs1554709683
NFIB
3 1.000 9 14307210 missense variant T/G snv 0.700 0
dbSNP: rs1564617866
rs1564617866
POLR3A
7 0.925 0.200 10 78000983 missense variant T/G snv 0.700 0
dbSNP: rs672601367
rs672601367
KIF1A
7 0.851 0.080 2 240785066 missense variant T/G snv 0.700 0