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: rs1554121671
rs1554121671
SYNGAP1
4 1.000 6 33440746 frameshift variant -/AGGA delins 0.700 0
dbSNP: rs1555103646
rs1555103646
GRIN2B
4 1.000 0.040 12 13569964 missense variant C/A snv 0.700 0
dbSNP: rs12936511
rs12936511
CRHR1 ; MAPT-AS1 ; LINC02210-CRHR1
5 0.925 0.080 17 45807036 synonymous variant C/T snv 3.1E-02 3.0E-02 0.010 1.000 1 2009 2009
dbSNP: rs2279709
rs2279709
SLC18A1
5 0.882 0.120 8 20178722 intron variant T/G snv 0.51 0.010 1.000 1 2018 2018
dbSNP: rs279871
rs279871
GABRA2
5 0.882 0.080 4 46303716 intron variant T/C snv 0.38 0.010 1.000 1 2017 2017
dbSNP: rs375382379
rs375382379
NR3C1
5 0.882 0.160 5 143399792 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs40184
rs40184
SLC6A3
5 0.851 0.120 5 1394962 intron variant C/T snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs550659379
rs550659379
NR3C1
5 0.882 0.160 5 143399780 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs752834812
rs752834812
NR3C1
5 0.882 0.160 5 143399885 missense variant T/C snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs772651364
rs772651364
NR3C1
5 0.882 0.160 5 143400050 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs945032
rs945032
BDKRB2
5 0.882 0.040 14 96204324 upstream gene variant T/C snv 0.78 0.010 1.000 1 2009 2009
dbSNP: rs9804190
rs9804190
ANK3
5 0.882 0.040 10 60080073 intron variant C/T snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs1060499679
rs1060499679
GNPTAB
5 0.851 0.280 12 101770496 inframe deletion GTG/- delins 0.700 0
dbSNP: rs1554776954
rs1554776954
STXBP1
5 1.000 9 127661133 frameshift variant A/- delins 0.700 0
dbSNP: rs1018381
rs1018381
DTNBP1
6 0.882 0.040 6 15656839 intron variant G/A snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs121909671
rs121909671
FUS
6 0.851 0.120 16 31191419 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1224426272
rs1224426272
CIT
6 0.925 0.040 12 119869138 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs13438494
rs13438494
PCLO
6 1.000 0.040 7 82759398 intron variant T/G snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs5177
rs5177
LRP8
6 0.851 0.120 1 53246063 3 prime UTR variant G/A;C snv 0.010 1.000 1 2020 2020
dbSNP: rs7341475
rs7341475
RELN
6 0.851 0.240 7 103764368 intron variant G/A snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs736707
rs736707
RELN ; LOC101927870
6 0.851 0.040 7 103489956 intron variant A/G snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs74315457
rs74315457
ARSA
6 0.851 0.160 22 50626976 missense variant A/C snv 2.3E-04 2.8E-04 0.010 1.000 1 2006 2006
dbSNP: rs112543062
rs112543062
GNPTAB
6 0.851 0.280 12 101770161 missense variant T/C;G snv 1.2E-05 0.700 0
dbSNP: rs1561515242
rs1561515242
CAMK4
6 1.000 0.080 5 111482938 splice donor variant G/A snv 0.700 0
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