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: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2018 2018
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 < 0.001 1 2006 2006
dbSNP: rs1122608
rs1122608
SMARCA4
16 0.763 0.120 19 11052925 intron variant G/T snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs121918027
rs121918027
PLG
7 0.827 0.320 6 160738593 missense variant G/A snv 1.4E-03 3.5E-04 0.010 1.000 1 1997 1997
dbSNP: rs121918095
rs121918095
TTR
6 0.827 0.160 18 31598602 missense variant G/A snv 7.9E-04 2.2E-04 0.010 1.000 1 2013 2013
dbSNP: rs12938
rs12938
SELL ; C1orf112
5 0.851 0.160 1 169691640 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2005 2005
dbSNP: rs1333049
rs1333049
CDKN2B-AS1
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs14259
rs14259
PSMD9
19 0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 0.010 1.000 1 2011 2011
dbSNP: rs1800458
rs1800458
TTR
5 0.851 0.280 18 31592902 missense variant G/A snv 5.1E-02 5.2E-02 0.010 1.000 1 2005 2005
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2009 2009
dbSNP: rs1967309
rs1967309
ADCY9
3 0.925 0.080 16 4015582 non coding transcript exon variant A/G snv 0.51 0.010 1.000 1 2018 2018
dbSNP: rs2144151
rs2144151
ANGPT4
1 20 903001 intron variant T/G snv 0.40 0.010 1.000 1 2010 2010
dbSNP: rs267606743
rs267606743
COL4A1
5 1.000 0.160 13 110192222 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs28933981
rs28933981
TTR
8 0.807 0.200 18 31598647 missense variant C/T snv 1.5E-03 1.7E-03 0.010 1.000 1 2013 2013
dbSNP: rs313158
rs313158 		1 6 85334045 intergenic variant A/T snv 1.8E-02 0.010 < 0.001 1 2009 2009
dbSNP: rs34203073
rs34203073
AGGF1
2 1.000 0.040 5 77035624 missense variant G/A snv 1.0E-02 9.9E-03 0.010 1.000 1 2006 2006
dbSNP: rs387906853
rs387906853
SMAD3
3 0.925 0.040 15 67181297 stop gained G/A;T snv 0.010 1.000 1 2015 2015
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 2017 2017
dbSNP: rs4977574
rs4977574
CDKN2B-AS1
26 0.695 0.520 9 22098575 intron variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs505151
rs505151
PCSK9
18 0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 0.010 1.000 1 2008 2008
dbSNP: rs579459
rs579459 		28 0.752 0.320 9 133278724 upstream gene variant C/T snv 0.81 0.010 1.000 1 2014 2014
dbSNP: rs599839
rs599839
PSRC1
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs6809699
rs6809699
P2RY12 ; MED12L
2 1.000 0.080 3 151338810 synonymous variant A/C snv 0.87 0.88 0.010 < 0.001 1 2008 2008
dbSNP: rs72653706
rs72653706
ABCC6
32 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.010 1.000 1 2011 2011
dbSNP: rs749437638
rs749437638
ARVCF ; COMT
14 0.752 0.240 22 19968597 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2006 2006