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: rs1057517846
rs1057517846
WWOX
2 1.000 16 78108446 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1554823375
rs1554823375
WDR37
8 0.851 0.160 10 1080454 missense variant C/T snv 0.700 0
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: rs1057518777
rs1057518777
UBE3A ; SNHG14
2 15 25339239 splice acceptor variant -/TGAGATGTAGGTA delins 0.700 0
dbSNP: rs864309508
rs864309508
UBE3A ; SNHG14
4 0.925 0.080 15 25356778 frameshift variant CA/- delins 0.700 0
dbSNP: rs34832477
rs34832477
TUBGCP2
3 0.925 0.120 10 133293066 missense variant G/A snv 4.0E-04 1.6E-03 0.010 1.000 1 2019 2019
dbSNP: rs886041459
rs886041459
TUBB3
3 0.925 0.080 16 89935140 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs121908869
rs121908869
TSHR ; CEP128
5 0.882 0.160 14 80955802 missense variant G/C snv 4.0E-05 7.0E-06 0.700 0
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: rs145536528
rs145536528
SLU7
3 1.000 5 160413521 missense variant G/A snv 1.6E-05 3.5E-05 0.010 1.000 1 2016 2016
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: rs587780455
rs587780455
SCN8A
7 0.827 0.160 12 51807116 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs1057518801
rs1057518801
SCN3A
5 0.851 0.080 2 165130238 missense variant A/G snv 0.700 0
dbSNP: rs398123001
rs398123001
PUF60
4 0.925 8 143818378 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1085307135
rs1085307135
PUF60
5 0.882 0.160 8 143818255 missense variant C/T snv 0.700 0
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: rs1085308043
rs1085308043
PTEN
12 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 0
dbSNP: rs121909219
rs121909219
PTEN
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
dbSNP: rs121909224
rs121909224
PTEN
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 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: rs398122855
rs398122855
PRPS1
5 0.882 0.240 X 107642384 missense variant G/C snv 0.010 1.000 1 2012 2012
dbSNP: rs774753616
rs774753616
PIGT ; LOC107985405
3 1.000 20 45419351 missense variant G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs730882240
rs730882240
PIGQ
3 1.000 0.080 16 574693 stop gained C/T snv 2.1E-05 0.700 0
dbSNP: rs1135402758
rs1135402758
NUP214
5 1.000 9 131199023 intron variant T/- delins 0.700 0