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: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.020 0.500 2 2004 2009
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.020 1.000 2 2000 2001
dbSNP: rs1282382243
rs1282382243
DLEU1 ; DLEU7 ; DLEU7-AS1
8 0.807 0.120 13 50843630 missense variant G/A snv 0.020 1.000 2 2002 2008
dbSNP: rs1333040
rs1333040
CDKN2B-AS1
15 0.732 0.280 9 22083405 intron variant C/G;T snv 0.020 1.000 2 2011 2014
dbSNP: rs1800588
rs1800588
LIPC ; ALDH1A2
16 0.790 0.200 15 58431476 intron variant C/G;T snv 0.30 0.020 1.000 2 2009 2013
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.020 1.000 2 2009 2014
dbSNP: rs2254638
rs2254638
N6AMT1
3 0.882 0.040 21 28883961 intron variant A/C;G snv 0.020 1.000 2 2017 2018
dbSNP: rs266729
rs266729
ADIPOQ
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.020 1.000 2 2011 2011
dbSNP: rs281865545
rs281865545
PECAM1
18 0.695 0.360 17 64377836 missense variant C/G;T snv 0.020 0.500 2 2003 2005
dbSNP: rs3135506
rs3135506
APOA5
26 0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02 0.020 1.000 2 2007 2009
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.020 1.000 2 2017 2019
dbSNP: rs4977574
rs4977574
CDKN2B-AS1
26 0.695 0.520 9 22098575 intron variant A/G;T snv 0.020 1.000 2 2014 2018
dbSNP: rs56149945
rs56149945
NR3C1
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.020 0.500 2 2001 2003
dbSNP: rs5888
rs5888
SCARB1
11 0.752 0.200 12 124800202 synonymous variant A/G;T snv 0.59; 4.0E-06 0.020 1.000 2 2013 2018
dbSNP: rs599839
rs599839
PSRC1
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.020 1.000 2 2010 2012
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.020 1.000 2 2017 2019
dbSNP: rs767830104
rs767830104
CXCR4
13 0.752 0.280 2 136115399 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.020 1.000 2 2008 2012
dbSNP: rs778916575
rs778916575
CAD
3 0.882 0.040 2 27222595 missense variant G/A snv 1.2E-05 0.020 1.000 2 2002 2006
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.020 1.000 2 2008 2009
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.020 0.500 2 2004 2009
dbSNP: rs1010
rs1010
VAMP8
7 0.807 0.120 2 85581859 3 prime UTR variant T/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs1035071612
rs1035071612
LDLR ; MIR6886
9 0.763 0.240 19 11113361 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs1044925
rs1044925
SOAT1
6 0.827 0.120 1 179354603 3 prime UTR variant C/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1048990
rs1048990
PSMA6
8 0.790 0.280 14 35292469 5 prime UTR variant C/G;T snv 0.19; 4.0E-06 0.010 1.000 1 2013 2013