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: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 1.000 14 2000 2014
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.060 0.833 6 1997 2009
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.050 1.000 5 2005 2016
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.030 1.000 3 2008 2012
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2005 2010
dbSNP: rs1617640
rs1617640
EPO
15 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.020 1.000 2 2008 2010
dbSNP: rs4961
rs4961
ADD1
27 0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 0.020 0.500 2 2003 2003
dbSNP: rs1020608562
rs1020608562
CCR5 ; CCR5AS
9 0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1044498
rs1044498
ENPP1
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.010 < 0.001 1 2008 2008
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2007 2007
dbSNP: rs10887800
rs10887800
RNLS ; LOC101929727
11 0.790 0.280 10 88316086 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs10951982
rs10951982
RAC1
5 0.851 0.160 7 6382925 intron variant G/A;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs1162592300
rs1162592300
ALB
3 0.925 0.080 4 73412045 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs12137135
rs12137135 		2 0.925 0.080 1 22348728 intergenic variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs121908529
rs121908529
AGXT
4 0.851 0.160 2 240871433 missense variant G/A;C snv 5.6E-04 0.010 1.000 1 2014 2014
dbSNP: rs1232898090
rs1232898090
PPARA
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs12513649
rs12513649 		6 0.851 0.160 5 173045049 regulatory region variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs13447075
rs13447075
PVT1
4 0.882 0.120 8 127998344 non coding transcript exon variant C/A snv 0.010 1.000 1 2007 2007
dbSNP: rs1372834938
rs1372834938
KIDINS220
12 0.763 0.280 2 8812465 missense variant G/C snv 4.2E-06 0.010 1.000 1 2009 2009
dbSNP: rs145640112
rs145640112
KLKB1
2 0.925 0.080 4 186250267 missense variant A/C;G snv 1.8E-04; 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1516792
rs1516792
IL1A
2 0.925 0.080 2 112778356 intron variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs161740
rs161740
CHD1
3 0.882 0.200 5 98869326 intron variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs17089362
rs17089362
CNDP2
3 0.882 0.160 18 74518403 non coding transcript exon variant G/A;T snv 0.010 1.000 1 2009 2009