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: rs165599
rs165599
ARVCF ; COMT
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2007 2007
dbSNP: rs1705236
rs1705236
TSPAN8
5 0.827 0.200 12 71151778 intron variant T/A snv 7.6E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs17135889
rs17135889
ABCA3
2 0.925 0.080 16 2337259 intron variant G/A snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs174576
rs174576
FADS2
14 0.851 0.200 11 61836038 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs175174
rs175174
ZDHHC8
3 0.882 0.120 22 20140031 non coding transcript exon variant A/G snv 0.44 0.010 1.000 1 2005 2005
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: 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: 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: rs187269
rs187269
GABRB2
6 0.827 0.160 5 161329618 3 prime UTR variant A/G snv 0.34 0.010 1.000 1 2009 2009
dbSNP: rs1938516
rs1938516
ERVMER61-1
2 0.925 0.120 1 187433789 intron variant T/A snv 5.7E-02 0.010 1.000 1 2014 2014
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: rs2066713
rs2066713
SLC6A4
9 0.807 0.200 17 30224647 intron variant G/A snv 0.34 0.010 < 0.001 1 2020 2020
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: rs2233406
rs2233406
NFKBIA
12 0.732 0.440 14 35405593 upstream gene variant G/A snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs2233409
rs2233409
NFKBIA
3 1.000 0.080 14 35405064 upstream gene variant G/A snv 0.19 0.010 1.000 1 2013 2013
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: 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: 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: rs2279709
rs2279709
SLC18A1
5 0.882 0.120 8 20178722 intron variant T/G snv 0.51 0.010 1.000 1 2006 2006
dbSNP: rs2284017
rs2284017
CACNG2
2 0.925 0.120 22 36700882 intron variant T/C snv 0.44 0.010 1.000 1 2008 2008
dbSNP: rs2284018
rs2284018
CACNG2
2 0.925 0.120 22 36701519 intron variant C/G;T snv 0.010 1.000 1 2008 2008
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: rs2546620
rs2546620
GABRB2
3 0.882 0.120 5 161332120 intron variant T/C snv 0.15 0.010 1.000 1 2009 2009
dbSNP: rs25531
rs25531
SLC6A4 ; LOC105371720
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 < 0.001 1 2020 2020
dbSNP: rs2664349
rs2664349
MMP16
1 1.000 0.080 8 88077054 intron variant G/A snv 0.65 0.010 1.000 1 2008 2008