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: rs1411224107
rs1411224107
SERPINE1
4 0.882 0.160 7 101128439 missense variant C/T snv 7.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 < 0.001 1 2004 2004
dbSNP: rs2288947
rs2288947
TINCR
5 0.827 0.160 19 5562104 3 prime UTR variant G/A snv 0.45 0.010 < 0.001 1 2019 2019
dbSNP: rs3803662
rs3803662
CASC16
25 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 0.010 < 0.001 1 2019 2019
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 2007 2007
dbSNP: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs769825641
rs769825641
SYCP3 ; CHPT1
2 1.000 0.040 12 101729109 splice region variant A/G snv 5.6E-05 0.010 < 0.001 1 2011 2011
dbSNP: rs774229224
rs774229224
PLG
6 0.882 0.160 6 160706454 missense variant C/A;G snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.040 0.750 4 2007 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.923 13 1999 2019
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.050 1.000 5 2000 2016
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.040 1.000 4 2002 2016
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.030 1.000 3 2005 2016
dbSNP: rs10046
rs10046
CYP19A1 ; MIR4713HG
18 0.708 0.400 15 51210789 3 prime UTR variant G/A snv 0.45 0.43 0.010 1.000 1 2009 2009
dbSNP: rs10485275
rs10485275
GRIK2
1 1.000 0.040 6 101718178 intron variant G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs10511668
rs10511668
SAXO1
1 1.000 0.040 9 19022472 intron variant C/T snv 0.35 0.010 1.000 1 2011 2011
dbSNP: rs10514716
rs10514716
LOC105377110
1 1.000 0.040 3 59495862 intron variant A/G snv 9.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs1053023
rs1053023
STAT3
4 0.882 0.120 17 42313598 3 prime UTR variant T/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2006 2006
dbSNP: rs1211942227
rs1211942227
HRG ; LOC105374258
1 1.000 0.040 3 186677347 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs121918474
rs121918474
PROS1
11 0.763 0.320 3 93905799 missense variant T/C snv 2.8E-05 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs12720459
rs12720459
KCNQ1
7 0.807 0.160 11 2583535 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs1369837875
rs1369837875
PLA2G6
4 0.882 0.200 22 38128276 synonymous variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1371086615
rs1371086615
APC
4 0.851 0.120 5 112828890 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1434830576
rs1434830576
CYP7A1
1 1.000 0.040 8 58498449 missense variant A/G snv 8.0E-06 0.010 1.000 1 2010 2010