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: rs6003
rs6003
F13B
5 0.851 0.240 1 197061891 missense variant C/T snv 0.88 0.76 0.010 1.000 1 2005 2005
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2019 2019
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2019 2019
dbSNP: rs5985
rs5985
F13A1
20 0.724 0.280 6 6318562 missense variant C/A;T snv 0.20; 2.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs1799853
rs1799853
CYP2C9
11 0.763 0.320 10 94942290 missense variant C/T snv 9.2E-02 8.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs1057910
rs1057910
CYP2C9
12 0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121918472
rs121918472
PROS1
3 0.925 0.040 3 93879306 missense variant A/C;G snv 1.2E-05; 2.0E-03 0.010 1.000 1 2014 2014
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 2013 2013
dbSNP: rs146922325
rs146922325
PROC ; LOC105373608
5 0.851 0.160 2 127426114 missense variant C/T snv 7.5E-04 3.2E-04 0.010 1.000 1 2018 2018
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.080 1.000 8 2007 2014
dbSNP: rs5742904
rs5742904
APOB
22 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.010 1.000 1 2018 2018
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
dbSNP: rs758146734
rs758146734
PRH1 ; PRR4 ; PRH1-PRR4
2 0.925 0.160 12 10882273 missense variant G/A snv 4.0E-05 3.5E-05 0.010 1.000 1 2018 2018
dbSNP: rs747418061
rs747418061
APC
10 0.807 0.200 5 112828920 missense variant G/A snv 3.2E-05 7.0E-06 0.030 1.000 3 1997 2005
dbSNP: rs200581891
rs200581891
KIDINS220
1 1.000 0.040 2 8788791 missense variant C/T snv 2.0E-05 3.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs764734814
rs764734814
PRH1 ; PRH2 ; PRR4 ; PRH1-PRR4
2 0.925 0.120 12 10930676 missense variant G/A snv 2.0E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs552953108
rs552953108
F2
16 0.724 0.200 11 46729529 missense variant G/A snv 1.6E-05 4.2E-05 0.020 1.000 2 1996 1999
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.100 0.947 19 1999 2018
dbSNP: rs779071898
rs779071898
F2
2 0.925 0.080 11 46739072 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs1194897557
rs1194897557
MTHFR
7 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 0.010 1.000 1 2000 2000
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: rs1314498183
rs1314498183
MTHFR
1 1.000 0.040 1 11803469 missense variant G/A snv 4.2E-06 0.010 1.000 1 2012 2012
dbSNP: rs1226052130
rs1226052130
ITGB3
2 0.925 0.120 17 47299308 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs763351020
rs763351020
SERPINE1
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.030 1.000 3 2005 2009
dbSNP: rs1276352833
rs1276352833
FGA
2 0.925 0.080 4 154586057 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016