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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 1.000 11 2000 2019
dbSNP: rs11107616
rs11107616
NAV3
1 1.000 0.120 12 77971000 intron variant T/G snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs7639705
rs7639705
MCF2L2
1 1.000 0.120 3 183309754 missense variant T/G snv 0.26 0.27 0.010 1.000 1 2010 2010
dbSNP: rs805304
rs805304
CLIC1 ; DDAH2
5 0.851 0.240 6 31730311 5 prime UTR variant T/G snv 0.48 0.010 1.000 1 2012 2012
dbSNP: rs2241766
rs2241766
ADIPOQ ; ADIPOQ-AS1
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.050 1.000 5 2013 2015
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: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.100 0.909 11 1996 2009
dbSNP: rs10811661
rs10811661 		22 0.724 0.400 9 22134095 intergenic variant T/C snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs10952362
rs10952362 		1 1.000 0.120 7 152565713 regulatory region variant T/C snv 0.25 0.700 1.000 1 2015 2015
dbSNP: rs11538209
rs11538209
ALB
2 1.000 0.120 4 73404356 missense variant T/C snv 0.010 < 0.001 1 2001 2001
dbSNP: rs1157043147
rs1157043147
ACE
1 1.000 0.120 17 63477150 missense variant T/C snv 2.8E-05 0.010 1.000 1 2003 2003
dbSNP: rs11651270
rs11651270
NLRP1
4 0.882 0.240 17 5521757 missense variant T/C snv 0.45 0.47 0.010 1.000 1 2018 2018
dbSNP: rs12976445
rs12976445
SPACA6 ; MIRLET7E ; MIR125A ; SPACA6P-AS
20 0.689 0.600 19 51693200 non coding transcript exon variant T/C snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs1549758
rs1549758
NOS3
7 0.807 0.360 7 150998638 synonymous variant T/C snv 0.76 0.76 0.010 1.000 1 2007 2007
dbSNP: rs1567438
rs1567438
LPAL2
3 0.925 0.200 6 160458599 intron variant T/C snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs1799964
rs1799964
LTA ; TNF ; LOC100287329
47 0.608 0.760 6 31574531 upstream gene variant T/C snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2014 2014
dbSNP: rs2779248
rs2779248
NOS2
4 0.882 0.160 17 27800806 intron variant T/C snv 0.39 0.010 1.000 1 2016 2016
dbSNP: rs3752462
rs3752462
MYH9
7 0.827 0.160 22 36314138 splice region variant T/C snv 0.57 0.53 0.010 1.000 1 2018 2018
dbSNP: rs3796268
rs3796268
MME
2 0.925 0.200 3 155117435 intron variant T/C snv 0.30 0.010 1.000 1 2011 2011
dbSNP: rs429358
rs429358
APOE
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.010 1.000 1 2011 2011
dbSNP: rs4311
rs4311
ACE
3 0.882 0.200 17 63483402 intron variant T/C snv 0.60 0.010 1.000 1 2007 2007
dbSNP: rs4667466
rs4667466
KCNH7
1 1.000 0.120 2 162832637 intron variant T/C snv 0.52 0.700 1.000 1 2015 2015
dbSNP: rs488846
rs488846 		2 0.925 0.160 18 54261400 intergenic variant T/C snv 0.26 0.010 1.000 1 2013 2013