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: rs5750250
rs5750250
MYH9
1 1.000 0.120 22 36312438 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs61758388
rs61758388
XYLT1 ; LOC107987234
4 0.851 0.360 16 17470454 missense variant C/A;G snv 2.7E-02 0.010 1.000 1 2006 2006
dbSNP: rs6504649
rs6504649
XYLT2
4 0.882 0.280 17 50360095 missense variant C/G;T snv 0.33; 3.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs652438
rs652438
MMP12
14 0.716 0.400 11 102865911 missense variant T/C;G snv 7.1E-02; 2.5E-04 0.010 1.000 1 2011 2011
dbSNP: rs713041
rs713041
GPX4
16 0.776 0.400 19 1106616 stop gained T/A;C snv 4.2E-06; 0.58 0.010 1.000 1 2013 2013
dbSNP: rs765798193
rs765798193
PSMD9
18 0.732 0.320 12 121915884 frameshift variant G/-;GG delins 0.010 1.000 1 2011 2011
dbSNP: rs770917264
rs770917264
MOK
1 1.000 0.120 14 102229547 stop gained G/A;C snv 4.0E-06; 1.6E-05 0.010 1.000 1 2007 2007
dbSNP: rs7756992
rs7756992
CDKAL1
12 0.827 0.240 6 20679478 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs80356814
rs80356814
LMNA
15 0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs833061
rs833061
VEGFA
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.010 1.000 1 2014 2014
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 2017 2017
dbSNP: rs994411260
rs994411260
DNMT1
2 0.925 0.160 19 10194877 missense variant G/C snv 0.010 < 0.001 1 2015 2015
dbSNP: rs9966483
rs9966483
LOC643542
2 0.925 0.160 18 67783109 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs140407862
rs140407862
WFS1
1 1.000 0.120 4 6301015 missense variant A/G snv 4.4E-05 1.0E-04 0.010 1.000 1 2018 2018
dbSNP: rs143101792
rs143101792
CRP
5 0.851 0.320 1 159714026 stop gained G/C snv 8.8E-05 1.3E-04 0.010 1.000 1 2014 2014
dbSNP: rs16928973
rs16928973
TRAF6
2 0.925 0.160 11 36492695 intron variant C/T snv 1.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs75444904
rs75444904
HPR ; TXNL4B
4 0.851 0.160 16 72061751 intron variant A/C snv 2.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs2234694
rs2234694
SOD1
3 0.882 0.240 21 31666552 intron variant A/C snv 3.6E-02 3.4E-02 0.010 1.000 1 2010 2010
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.020 0.500 2 2012 2017
dbSNP: rs17592236
rs17592236
FOXO1
2 0.925 0.200 13 40557795 3 prime UTR variant C/T snv 3.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2001 2001
dbSNP: rs73206603
rs73206603
LOC107984625
3 0.882 0.160 13 59495931 regulatory region variant G/C snv 4.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 < 0.001 1 2004 2004
dbSNP: rs17300539
rs17300539
ADIPOQ
11 0.752 0.320 3 186841671 upstream gene variant G/A snv 5.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs2228146
rs2228146
IL6R
3 0.925 0.120 1 154454574 missense variant G/A snv 1.3E-02; 4.0E-06 5.4E-02 0.010 1.000 1 2005 2005