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: rs80359636
rs80359636
BRCA2
7 0.851 0.240 13 32354921 frameshift variant CT/- delins 2.8E-05 0.700 1.000 6 2005 2013
dbSNP: rs142441643
rs142441643
SDHA
15 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 1.000 4 2010 2017
dbSNP: rs267606959
rs267606959
POLG
19 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.700 1.000 2 2010 2011
dbSNP: rs10509125
rs10509125
ANK3
2 10 60167108 intron variant C/A snv 0.56 0.700 1.000 1 2015 2015
dbSNP: rs1060499679
rs1060499679
GNPTAB
5 0.851 0.280 12 101770496 inframe deletion GTG/- delins 0.700 0
dbSNP: rs1060503383
rs1060503383
SYNGAP1
14 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
dbSNP: rs112543062
rs112543062
GNPTAB
6 0.851 0.280 12 101770161 missense variant T/C;G snv 1.2E-05 0.700 0
dbSNP: rs1553510492
rs1553510492
TBR1
4 2 161419040 missense variant A/G snv 0.700 0
dbSNP: rs1554121671
rs1554121671
SYNGAP1
4 1.000 6 33440746 frameshift variant -/AGGA delins 0.700 0
dbSNP: rs1554776954
rs1554776954
STXBP1
5 1.000 9 127661133 frameshift variant A/- delins 0.700 0
dbSNP: rs1555103646
rs1555103646
GRIN2B
4 1.000 0.040 12 13569964 missense variant C/A snv 0.700 0
dbSNP: rs1555103652
rs1555103652
GRIN2B
11 0.882 0.240 12 13569973 missense variant A/C snv 0.700 0
dbSNP: rs1555462347
rs1555462347
USP7
34 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
dbSNP: rs1561515242
rs1561515242
CAMK4
6 1.000 0.080 5 111482938 splice donor variant G/A snv 0.700 0
dbSNP: rs1569355102
rs1569355102
DYRK1A
51 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
dbSNP: rs28934908
rs28934908
MECP2
23 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
33 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
dbSNP: rs587784177
rs587784177
NSD1
20 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
dbSNP: rs72653772
rs72653772
ABCC6
16 0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04 0.700 0
dbSNP: rs886041097
rs886041097
NAA15
9 0.882 0.160 4 139386152 stop gained C/G snv 0.700 0
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 1.000 18 2004 2019
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 1.000 17 2004 2019
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 1.000 12 2008 2018
dbSNP: rs25531
rs25531
SLC6A4 ; LOC105371720
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.050 0.200 5 2007 2020
dbSNP: rs1006737
rs1006737
CACNA1C
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.040 1.000 4 2014 2018