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: rs180177035
rs180177035
BRAF
35 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
dbSNP: rs397507549
rs397507549
PTPN11
13 0.742 0.240 12 112489104 missense variant C/A;G snv 0.700 1.000 2 2005 2006
dbSNP: rs1057519942
rs1057519942
PIK3CA
16 0.724 0.320 3 179203760 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1553630457
rs1553630457
TGFBR2
8 0.882 0.240 3 30674231 missense variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
54 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
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: rs1057516030
rs1057516030
DYRK1A ; LOC105372797
14 0.807 0.280 21 37480785 stop gained -/A delins 0.700 0
dbSNP: rs1057518914
rs1057518914
RPS6KA3
14 0.790 0.160 X 20193547 missense variant G/C snv 0.700 0
dbSNP: rs1057519369
rs1057519369
NF1
13 0.790 0.280 17 31340532 frameshift variant -/G delins 0.700 0
dbSNP: rs1057524237
rs1057524237
COL11A1
7 0.851 0.280 1 102915626 splice region variant C/T snv 0.700 0
dbSNP: rs1114167291
rs1114167291
ANKRD11
10 0.790 0.280 16 89281225 stop gained C/A snv 0.700 0
dbSNP: rs1213930919
rs1213930919
TTN ; TTN-AS1
9 0.882 0.120 2 178577785 stop gained G/A snv 0.700 0
dbSNP: rs121907922
rs121907922
PAX6 ; ELP4
12 0.742 0.320 11 31789935 stop gained T/A snv 0.700 0
dbSNP: rs121913375
rs121913375
BRAF
7 0.851 0.240 7 140753339 missense variant G/A;C snv 0.700 0
dbSNP: rs121913378
rs121913378
BRAF
11 0.776 0.280 7 140753337 missense variant C/A;G;T snv 0.700 0
dbSNP: rs121918455
rs121918455
PTPN11
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
dbSNP: rs121918456
rs121918456
PTPN11
13 0.752 0.280 12 112473023 missense variant A/C;G snv 0.700 0
dbSNP: rs121918466
rs121918466
PTPN11
14 0.752 0.280 12 112450416 missense variant A/G snv 0.700 0
dbSNP: rs121918487
rs121918487
FGFR2
25 0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 0
dbSNP: rs121918494
rs121918494
FGFR2
25 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs1553200431
rs1553200431
COL11A1
8 0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 0.700 0
dbSNP: rs1553212868
rs1553212868
POGZ
17 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
dbSNP: rs1554110735
rs1554110735
TFAP2A
13 0.776 0.200 6 10398693 frameshift variant TT/- delins 0.700 0
dbSNP: rs1554196416
rs1554196416
PHIP ; IRAK1BP1
15 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0