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: rs2075252
rs2075252
LRP2
5 0.925 0.160 2 169154475 stop gained T/A;C snv 0.76 0.010 1.000 1 2020 2020
dbSNP: rs2227983
rs2227983
EGFR
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 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: rs2733201
rs2733201
FRMD5
2 0.925 0.040 15 44116203 intron variant T/A;C snv 0.700 1.000 1 2017 2017
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: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2019 2019
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2015 2015
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: rs35610040
rs35610040
CST3
2 1.000 0.040 20 23635832 intron variant T/C snv 0.19 0.700 1.000 1 2014 2014
dbSNP: rs3732378
rs3732378
CX3CR1
48 0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12 0.020 1.000 2 2005 2018
dbSNP: rs3732379
rs3732379
CX3CR1
38 0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22 0.010 1.000 1 2005 2005
dbSNP: rs3737224
rs3737224
PEAR1
3 0.882 0.160 1 156909788 synonymous variant C/T snv 0.14 0.13 0.010 1.000 1 2018 2018
dbSNP: rs3742264
rs3742264
CPB2 ; CPB2-AS1
17 0.742 0.400 13 46073959 missense variant C/T snv 0.31 0.35 0.010 1.000 1 2009 2009
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: 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: rs3850641
rs3850641
TNFSF4
17 0.716 0.400 1 173206693 intron variant A/G snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs41273215
rs41273215
PEAR1
3 0.882 0.160 1 156912167 intron variant C/T snv 0.13 0.010 1.000 1 2018 2018
dbSNP: rs41507953
rs41507953
EPHX2
10 0.790 0.280 8 27500988 missense variant A/G snv 8.7E-02 0.13 0.010 1.000 1 2018 2018
dbSNP: rs4244285
rs4244285
CYP2C19
18 0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs4343
rs4343
ACE
14 0.742 0.480 17 63488670 synonymous variant G/A snv 0.53 0.010 1.000 1 2020 2020
dbSNP: rs4357117
rs4357117
LOC107986540
2 0.925 0.040 6 66873865 intergenic variant G/T snv 1.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs4668123
rs4668123
LRP2
6 0.851 0.280 2 169196995 missense variant C/A;G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs4769874
rs4769874
ALOX5AP
5 0.827 0.240 13 30752304 intron variant G/A snv 5.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2011 2011