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: rs121918470
rs121918470
PTPN11
10 0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 0.700 1.000 4 2004 2006
dbSNP: rs1064794254
rs1064794254
UPF3B
6 0.851 0.120 X 119841185 frameshift variant CT/- delins 0.700 1.000 3 2007 2012
dbSNP: rs34002892
rs34002892
GNPTAB
8 0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04 0.700 1.000 3 2006 2014
dbSNP: rs1064793345
rs1064793345
PTEN
11 0.752 0.240 10 87961039 missense variant T/C snv 0.700 1.000 2 2012 2012
dbSNP: rs180177035
rs180177035
BRAF
35 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
dbSNP: rs1057515572
rs1057515572
PMS2
8 0.882 0.200 7 5987033 frameshift variant GC/ACT delins 0.700 1.000 1 2007 2007
dbSNP: rs1057516044
rs1057516044
ABCC9
9 0.851 0.240 12 21913005 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057516048
rs1057516048
NSD1
8 0.925 0.200 5 177283796 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1064793829
rs1064793829
GATAD2B
5 0.882 0.160 1 153816571 frameshift variant A/- delins 0.700 1.000 1 2017 2017
dbSNP: rs113331868
rs113331868
CAMK2A
6 5 150228191 splice donor variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs121913348
rs121913348
BRAF
20 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs1554904159
rs1554904159
BRSK2 ; LOC107984298
11 0.851 0.160 11 1442607 splice donor variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs587777893
rs587777893
MTOR
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs926027867
rs926027867
CAMK2A
12 0.882 0.040 5 150251808 missense variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1057518644
rs1057518644
HGSNAT
10 0.925 0.120 8 43192413 stop gained C/T snv 0.700 0
dbSNP: rs1057518978
rs1057518978
ADNP
3 1.000 0.160 20 50892395 frameshift variant -/T delins 0.700 0
dbSNP: rs1057518992
rs1057518992
NFIA
2 1.000 0.200 1 61359232 frameshift variant G/- delins 0.700 0
dbSNP: rs1057519925
rs1057519925
PIK3CA
25 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0
dbSNP: rs1057519946
rs1057519946
PPP2R1A
18 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 0
dbSNP: rs1060499626
rs1060499626
ZMYND11
6 0.882 0.160 10 180034 stop gained C/T snv 0.700 0
dbSNP: rs1064795760
rs1064795760
BICD2
14 0.882 0.080 9 92719007 inframe deletion ATT/- del 0.700 0
dbSNP: rs1085308039
rs1085308039
PTEN
6 0.925 0.080 10 87933075 stop gained G/T snv 0.700 0
dbSNP: rs1085308040
rs1085308040
PTEN
6 0.851 0.200 10 87961096 missense variant G/A;T snv 0.700 0
dbSNP: rs1085308041
rs1085308041
PTEN
12 0.763 0.160 10 87965285 splice acceptor variant A/C;G snv 0.700 0