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: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2007 2007
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2019 2019
dbSNP: rs113092656
rs113092656 		5 0.882 0.120 6 11615072 intergenic variant G/A snv 2.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs1131012
rs1131012
PECAM1
10 0.763 0.280 17 64350416 missense variant T/C snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs114209171
rs114209171
FUNDC2
5 0.882 0.120 X 155050522 non coding transcript exon variant T/C snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs1164821473
rs1164821473
F5
2 0.925 0.080 1 169546573 missense variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs118203905
rs118203905
F5
2 1.000 0.040 1 169555300 missense variant T/C snv 6.9E-04 2.0E-04 0.010 1.000 1 2003 2003
dbSNP: rs1183194405
rs1183194405
F2
19 0.716 0.440 11 46719773 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.030 1.000 3 1999 2008
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.090 1.000 9 1999 2015
dbSNP: rs1203757587
rs1203757587
MTHFR
1 1.000 0.040 1 11792279 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.952 21 1997 2019
dbSNP: rs121909567
rs121909567
SERPINC1
2 0.925 0.120 1 173914570 missense variant G/A snv 1.6E-05 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs121909613
rs121909613
FGA
5 0.882 0.160 4 154585712 splice acceptor variant G/A;C;T snv 4.8E-05; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121918027
rs121918027
PLG
7 0.827 0.320 6 160738593 missense variant G/A snv 1.4E-03 3.5E-04 0.010 1.000 1 2003 2003
dbSNP: rs121918146
rs121918146
PROC ; LOC105373608
5 0.827 0.200 2 127428485 missense variant G/A snv 1.2E-05 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs121918156
rs121918156
PROC ; LOC105373608
3 0.882 0.120 2 127427219 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs121918474
rs121918474
PROS1
11 0.763 0.320 3 93905799 missense variant T/C snv 2.8E-05 1.4E-05 0.030 1.000 3 2006 2010
dbSNP: rs1248438558
rs1248438558
F10
2 0.925 0.120 13 113149020 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1255283120
rs1255283120
MTHFR
7 0.807 0.160 1 11792345 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs12634349
rs12634349
PROS1
1 1.000 0.040 3 93882955 intron variant A/G snv 0.34 0.010 1.000 1 2019 2019
dbSNP: rs12953
rs12953
PECAM1
9 0.763 0.200 17 64356203 missense variant C/A;T snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs13062355
rs13062355
PROS1
1 1.000 0.040 3 93969667 intron variant G/A snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs13146272
rs13146272
CYP4V2
3 1.000 0.040 4 186199057 missense variant C/A snv 0.57 0.61 0.010 1.000 1 2008 2008
dbSNP: rs1321566264
rs1321566264
PROC ; LOC105373608
2 0.925 0.120 2 127428522 missense variant C/T snv 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs13306190
rs13306190
APOB
7 0.807 0.320 2 21032408 missense variant G/A;C;T snv 1.7E-04; 8.0E-06 0.010 1.000 1 2018 2018