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: rs1341139296
rs1341139296
NOS3
1 7 150998546 missense variant A/G snv 8.2E-06 0.010 1.000 1 2017 2017
dbSNP: rs7173826
rs7173826
AAGAB
1 15 67236036 missense variant T/C;G snv 8.0E-06; 0.37 0.700 1.000 1 2019 2019
dbSNP: rs750593479
rs750593479
FGB
2 1.000 0.080 4 154565881 missense variant C/T snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.030 1.000 3 2011 2019
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs2241766
rs2241766
ADIPOQ ; ADIPOQ-AS1
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.080 0.875 8 2005 2019
dbSNP: rs397509365
rs397509365
LDLR
5 0.925 0.080 19 11116197 missense variant A/C;G snv 8.0E-06 0.020 0.500 2 2002 2005
dbSNP: rs544456198
rs544456198
LDLR
9 0.790 0.120 19 11116930 missense variant G/T snv 8.0E-06 2.8E-05 0.010 1.000 1 2006 2006
dbSNP: rs1194897557
rs1194897557
MTHFR
7 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 0.010 < 0.001 1 1996 1996
dbSNP: rs1355489726
rs1355489726
SLC19A1
1 21 45530902 missense variant G/A snv 7.7E-06 0.010 1.000 1 2011 2011
dbSNP: rs137852912
rs137852912
PCSK9
10 0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs58713975
rs58713975
LOC101927093
1 17 30573897 intron variant C/A;G snv 6.7E-06; 0.37 0.700 1.000 1 2019 2019
dbSNP: rs11887534
rs11887534
ABCG5 ; ABCG8
29 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.020 0.500 2 2008 2009
dbSNP: rs137852988
rs137852988
ABCG8
2 1.000 0.120 2 43875377 missense variant G/A snv 6.4E-05 2.2E-04 0.010 1.000 1 2013 2013
dbSNP: rs7698623
rs7698623
MEPE
2 4 87834676 intron variant T/A;C snv 6.1E-05; 0.94 0.710 1.000 1 2011 2011
dbSNP: rs763802417
rs763802417
NOX1
5 0.882 0.040 X 100862805 missense variant G/A snv 5.9E-06 0.010 1.000 1 2016 2016
dbSNP: rs2290769
rs2290769
UNC13D
1 17 75830325 intron variant G/A;C snv 4.9E-06; 0.18 0.700 1.000 1 2019 2019
dbSNP: rs201058276
rs201058276
F7
11 0.776 0.240 13 113118731 missense variant G/A;C snv 4.8E-05; 4.0E-06 0.020 1.000 2 2001 2004
dbSNP: rs1183194405
rs1183194405
F2
19 0.716 0.440 11 46719773 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.010 1.000 1 2019 2019
dbSNP: rs1800947
rs1800947
CRP
28 0.683 0.440 1 159713648 splice region variant C/A;G;T snv 4.4E-05; 5.1E-02; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs765625943
rs765625943
MTHFR
4 0.882 0.200 1 11803417 missense variant G/A snv 4.3E-06 0.010 1.000 1 2016 2016
dbSNP: rs375752214
rs375752214
NOS3
22 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs571448378
rs571448378
FDXR
5 0.882 0.120 17 74872110 stop gained G/A;C snv 4.1E-06; 4.1E-06 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs373644334
rs373644334
PIK3CG
1 7 106867748 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1265538677
rs1265538677
CPB2 ; CPB2-AS1
10 0.790 0.200 13 46055808 synonymous variant A/G snv 4.0E-06 0.020 0.500 2 2009 2014