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: rs1133503
rs1133503
MANEA
4 1.000 0.040 6 95606712 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs121964849
rs121964849
TPI1
2 1.000 0.120 12 6869741 missense variant A/G snv 0.010 1.000 1 2015 2015
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: rs2074898
rs2074898
NDUFS7
3 1.000 0.040 19 1391362 intron variant A/C;G snv 0.010 1.000 1 2013 2013
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: 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: rs3915512
rs3915512
DLG1 ; MIR4797
3 1.000 0.040 3 197295369 intron variant A/G;T snv 0.010 1.000 1 2015 2015
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: rs1561515242
rs1561515242
CAMK4
6 1.000 0.080 5 111482938 splice donor variant G/A snv 0.700 0
dbSNP: rs104894127
rs104894127
TPM2
4 0.925 0.080 9 35685750 missense variant G/C snv 0.010 1.000 1 2017 2017
dbSNP: rs1059004
rs1059004
OLIG2
4 0.925 0.040 21 33028155 3 prime UTR variant C/A snv 0.41 0.010 1.000 1 2013 2013
dbSNP: rs121918805
rs121918805
SCN1A ; SCN1A-AS1 ; LOC102724058
4 0.925 0.080 2 166002660 missense variant C/A;T snv 2.0E-05 0.010 1.000 1 2007 2007
dbSNP: rs1224426272
rs1224426272
CIT
6 0.925 0.040 12 119869138 missense variant C/T snv 0.010 1.000 1 2019 2019
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: rs137853208
rs137853208
DDC ; FIGNL1
3 0.925 0.080 7 50504025 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs2144025
rs2144025
ESR1
4 0.925 0.080 6 151986571 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs373288445
rs373288445
DISC1 ; TSNAX-DISC1
3 0.925 0.080 1 231694534 missense variant C/T snv 5.6E-05 4.2E-05 0.010 1.000 1 2014 2014
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: rs773758385
rs773758385
DISC1 ; TSNAX-DISC1
3 0.925 0.080 1 231694162 missense variant C/T snv 1.0E-04 3.5E-05 0.010 1.000 1 2014 2014
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: rs120074125
rs120074125
SMPD1
7 0.882 0.160 11 6393301 missense variant T/G snv 4.0E-06 0.010 1.000 1 2007 2007
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