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: rs3025058
rs3025058
MMP3
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.010 1.000 1 2017 2017
dbSNP: rs3087459
rs3087459
EDN1
2 0.925 0.160 6 12289406 upstream gene variant A/C snv 0.20 0.010 1.000 1 2014 2014
dbSNP: rs3761581
rs3761581
APLN
5 0.851 0.160 X 129655744 upstream gene variant A/C snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs2768759
rs2768759 		4 0.851 0.200 1 156882671 downstream gene variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.040 1.000 4 2012 2014
dbSNP: rs10757274
rs10757274
CDKN2B-AS1
22 0.701 0.320 9 22096056 intron variant A/G snv 0.41 0.020 0.500 2 2012 2012
dbSNP: rs1239681664
rs1239681664
ABCA1
15 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 0.020 1.000 2 2014 2014
dbSNP: rs3850641
rs3850641
TNFSF4
17 0.716 0.400 1 173206693 intron variant A/G snv 0.14 0.020 1.000 2 2011 2019
dbSNP: rs1187513719
rs1187513719
CYP2C19
4 0.851 0.200 10 94780595 missense variant A/G snv 4.0E-06 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 0.010 1.000 1 2017 2017
dbSNP: rs12766939
rs12766939
CUBN
2 0.925 0.160 10 17031136 intron variant A/G snv 0.23 0.010 1.000 1 2020 2020
dbSNP: rs1801222
rs1801222
CUBN
5 0.925 0.160 10 17114152 missense variant A/G snv 0.73 0.72 0.010 1.000 1 2020 2020
dbSNP: rs1801252
rs1801252
ADRB1
17 0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 0.010 1.000 1 2005 2005
dbSNP: rs2029253
rs2029253
ALOX5
3 0.925 0.200 10 45396036 intron variant A/G snv 0.37 0.010 1.000 1 2008 2008
dbSNP: rs2235312
rs2235312
APLN
3 0.882 0.160 X 129653118 intron variant A/G snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs2383206
rs2383206
CDKN2B-AS1
17 0.742 0.320 9 22115027 intron variant A/G snv 0.49 0.010 1.000 1 2012 2012
dbSNP: rs2389995
rs2389995
HDAC9
3 0.925 0.200 7 18933395 intron variant A/G snv 6.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs243327
rs243327
RMI2 ; LOC105371082
4 0.882 0.280 16 11259447 intron variant A/G snv 0.52 0.010 1.000 1 2014 2014
dbSNP: rs3092952
rs3092952 		3 0.925 0.160 X 136644791 upstream gene variant A/G snv 0.29 0.010 < 0.001 1 2019 2019
dbSNP: rs3784929
rs3784929
KARS1
2 0.925 0.160 16 75643129 intron variant A/G snv 0.30 0.010 < 0.001 1 2016 2016
dbSNP: rs41507953
rs41507953
EPHX2
10 0.790 0.280 8 27500988 missense variant A/G snv 8.7E-02 0.13 0.010 < 0.001 1 2018 2018
dbSNP: rs5070
rs5070
APOA1 ; APOA1-AS
5 0.882 0.160 11 116837304 intron variant A/G snv 0.56 0.60 0.010 < 0.001 1 2018 2018
dbSNP: rs5369
rs5369
EDN1
1 1.000 0.120 6 12294025 synonymous variant A/G snv 0.90 0.88 0.010 1.000 1 2014 2014
dbSNP: rs559110055
rs559110055
ABCA1
2 0.925 0.160 9 104840491 missense variant A/G snv 4.0E-06 0.010 1.000 1 2018 2018