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: rs1057518759
rs1057518759
CDKL5
2 1.000 0.040 X 18604394 frameshift variant -/GC delins 0.700 0
dbSNP: rs1057518777
rs1057518777
UBE3A ; SNHG14
2 15 25339239 splice acceptor variant -/TGAGATGTAGGTA delins 0.700 0
dbSNP: rs142375870
rs142375870
MAG
3 0.925 0.080 19 35302594 missense variant A/C snv 2.3E-04 2.2E-04 0.010 1.000 1 2019 2019
dbSNP: rs121913105
rs121913105
FGFR3
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.010 1.000 1 1999 1999
dbSNP: rs267607048
rs267607048
SHOC2
16 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.700 1.000 2 2009 2012
dbSNP: rs28933386
rs28933386
PTPN11
15 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 2 2001 2006
dbSNP: rs587780455
rs587780455
SCN8A
7 0.827 0.160 12 51807116 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs80356730
rs80356730
TARDBP
7 0.807 0.120 1 11022418 missense variant A/G snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1057518801
rs1057518801
SCN3A
5 0.851 0.080 2 165130238 missense variant A/G snv 0.700 0
dbSNP: rs1085308043
rs1085308043
PTEN
12 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 0
dbSNP: rs869320624
rs869320624
EMC1 ; EMC1-AS1
13 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 1.000 2 2016 2017
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2011 2011
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: rs80356611
rs80356611
KCNJ11
10 0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs80356624
rs80356624
KCNJ11
16 0.752 0.240 11 17387490 missense variant C/A;T snv 0.020 1.000 2 2005 2006
dbSNP: rs104894421
rs104894421
LIG4
4 0.882 0.200 13 108210436 missense variant C/A;T snv 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs80356618
rs80356618
KCNJ11
8 0.807 0.200 11 17387595 missense variant C/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs121909219
rs121909219
PTEN
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
dbSNP: rs121909231
rs121909231
PTEN
32 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
dbSNP: rs121913293
rs121913293
PTEN
18 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 0
dbSNP: rs121908332
rs121908332
KCNK9
5 0.882 0.240 8 139618677 missense variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs200345816
rs200345816
CUX1 ; SH2B2
3 0.925 0.040 7 102283048 missense variant C/G;T snv 6.0E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs587777585
rs587777585
VARS2
6 0.882 6 30918851 missense variant C/G;T snv 2.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs121909224
rs121909224
PTEN
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 0
dbSNP: rs80356616
rs80356616
KCNJ11
19 0.732 0.360 11 17387917 missense variant C/T snv 0.030 1.000 3 2006 2006