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: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2015 2015
dbSNP: rs1390938
rs1390938
SLC18A1
7 0.807 0.200 8 20179202 missense variant A/G snv 0.71 0.78 0.010 1.000 1 2006 2006
dbSNP: rs6313
rs6313
HTR2A
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2014 2014
dbSNP: rs2498804
rs2498804
SIVA1 ; LOC102723342 ; LOC107987209
8 0.827 0.160 14 104766758 intron variant C/A;T snv 0.40 0.33 0.010 1.000 1 2012 2012
dbSNP: rs2251219
rs2251219
PBRM1 ; SMIM4
14 0.732 0.120 3 52550771 synonymous variant T/C;G snv 0.39; 4.0E-06 0.34 0.010 1.000 1 2017 2017
dbSNP: rs2270641
rs2270641
SLC18A1
3 0.882 0.120 8 20180955 missense variant T/C;G snv 0.32 0.010 1.000 1 2006 2006
dbSNP: rs7975
rs7975
GSTZ1
9 0.763 0.320 14 77326864 stop gained G/A;C;T snv 0.31 0.32 0.010 1.000 1 2012 2012
dbSNP: rs5174
rs5174
LRP8
10 0.776 0.240 1 53247055 missense variant C/T snv 0.29 0.28 0.010 1.000 1 2016 2016
dbSNP: rs1800566
rs1800566
NQO1
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.010 1.000 1 2015 2015
dbSNP: rs1966265
rs1966265
FGFR4
8 0.827 0.160 5 177089630 missense variant G/A;T snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs2229569
rs2229569
SELL ; C1orf112
8 0.790 0.360 1 169704697 missense variant G/A;T snv 0.21; 3.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs2270637
rs2270637
SLC18A1
3 0.882 0.120 8 20179316 missense variant C/G snv 0.20 0.21 0.010 1.000 1 2006 2006
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.070 0.571 7 2003 2015
dbSNP: rs1800450
rs1800450
MBL2
26 0.662 0.640 10 52771475 missense variant C/T snv 0.14 0.11 0.010 1.000 1 2007 2007
dbSNP: rs2230912
rs2230912
P2RX7 ; LOC105370032
16 0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 0.020 1.000 2 2009 2013
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs5030737
rs5030737
MBL2
11 0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs5744168
rs5744168
TLR5
18 0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02 0.010 1.000 1 2012 2012
dbSNP: rs61749465
rs61749465
MCPH1
5 0.851 0.120 8 6414832 missense variant A/G snv 2.1E-03 1.9E-03 0.010 1.000 1 2019 2019
dbSNP: rs34957318
rs34957318
BMP1 ; SFTPC
2 0.925 0.080 8 22163947 missense variant G/A snv 1.1E-03 4.3E-03 0.010 1.000 1 2014 2014
dbSNP: rs28364997
rs28364997
SLC6A3
9 0.807 0.120 5 1403013 missense variant G/A snv 5.3E-04 5.8E-04 0.010 1.000 1 2014 2014
dbSNP: rs371131106
rs371131106
ACE
2 0.925 0.120 17 63485346 missense variant A/G snv 8.4E-05 1.6E-04 0.010 1.000 1 2007 2007
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.070 0.571 7 2003 2015
dbSNP: rs1311223100
rs1311223100
SLC18A1
2 0.925 0.120 8 20180955 frameshift variant T/- del 5.2E-06 0.010 1.000 1 2006 2006