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: rs112543062
rs112543062
GNPTAB
6 0.851 0.280 12 101770161 missense variant T/C;G snv 1.2E-05 0.700 0
dbSNP: rs1060499679
rs1060499679
GNPTAB
5 0.851 0.280 12 101770496 inframe deletion GTG/- delins 0.700 0
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: 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: rs1561515242
rs1561515242
CAMK4
6 1.000 0.080 5 111482938 splice donor variant G/A snv 0.700 0
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs1800497
rs1800497
ANKK1
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2009 2009
dbSNP: rs6277
rs6277
DRD2
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.010 1.000 1 2010 2010
dbSNP: rs1801028
rs1801028
DRD2
24 0.716 0.200 11 113412762 missense variant G/C snv 2.7E-02 1.8E-02 0.010 1.000 1 1996 1996
dbSNP: rs6280
rs6280
DRD3
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2014 2014
dbSNP: rs6318
rs6318
HTR2C ; LOC105373313
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.030 0.667 3 1999 2015
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2011 2011
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: rs1224426272
rs1224426272
CIT
6 0.925 0.040 12 119869138 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1554776954
rs1554776954
STXBP1
5 1.000 9 127661133 frameshift variant A/- delins 0.700 0
dbSNP: rs28939688
rs28939688
OPTN
7 0.807 0.040 10 13109270 missense variant G/A snv 0.010 1.000 1 2016 2016
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: rs2074898
rs2074898
NDUFS7
3 1.000 0.040 19 1391362 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs886041097
rs886041097
NAA15
9 0.882 0.160 4 139386152 stop gained C/G snv 0.700 0
dbSNP: rs27072
rs27072
SLC6A3
11 0.807 0.120 5 1394407 3 prime UTR variant C/A;T snv 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: rs41423247
rs41423247
NR3C1
23 0.695 0.440 5 143399010 intron variant G/C snv 0.31 0.010 1.000 1 2012 2012
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: 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