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: rs1554776954
rs1554776954
STXBP1
5 1.000 9 127661133 frameshift variant A/- delins 0.700 0
dbSNP: rs3813034
rs3813034
SLC6A4
8 0.827 0.160 17 30197786 3 prime UTR variant A/C snv 0.40 0.010 1.000 1 2010 2010
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: rs1555103652
rs1555103652
GRIN2B
11 0.882 0.240 12 13569973 missense variant A/C snv 0.700 0
dbSNP: rs2074898
rs2074898
NDUFS7
3 1.000 0.040 19 1391362 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs28936379
rs28936379
PSEN2
10 0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs4916723
rs4916723
LINC00461
4 0.925 0.040 5 88558577 intron variant A/C;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2049161
rs2049161
DLGAP1
2 18 4127583 intron variant A/C;T snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 0.667 3 2006 2011
dbSNP: rs121964849
rs121964849
TPI1
2 1.000 0.120 12 6869741 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1466835565
rs1466835565
HK1
1 10 69368539 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2018 2018
dbSNP: rs200754713
rs200754713
PSEN2
2 1 226888954 missense variant A/G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs279826
rs279826
GABRA2
4 1.000 0.080 4 46332192 intron variant A/G snv 0.46 0.010 1.000 1 2016 2016
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: rs754747375
rs754747375
HK1
1 10 69369252 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs9296158
rs9296158
FKBP5 ; LOC112267956
16 0.763 0.080 6 35599305 intron variant A/G snv 0.65 0.010 1.000 1 2017 2017
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 < 0.001 1 2013 2013
dbSNP: rs1553510492
rs1553510492
TBR1
4 2 161419040 missense variant A/G snv 0.700 0
dbSNP: rs53576
rs53576
CAV3 ; OXTR
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.030 1.000 3 2015 2019
dbSNP: rs2400707
rs2400707
ADRB2
3 1.000 0.040 5 148825489 5 prime UTR variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2710102
rs2710102
CNTNAP2
12 0.790 0.120 7 147877298 intron variant A/G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs279827
rs279827
GABRA2
2 4 46332685 splice region variant A/G;T snv 0.44 0.41 0.010 1.000 1 2016 2016
dbSNP: rs3915512
rs3915512
DLG1 ; MIR4797
3 1.000 0.040 3 197295369 intron variant A/G;T snv 0.010 1.000 1 2015 2015