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: rs422187
rs422187
F9
1 1.000 0.040 X 139550700 intron variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs4444878
rs4444878
F11-AS1
7 0.851 0.120 4 186292729 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4987262
rs4987262
PTGIR
4 0.882 0.040 19 46623592 missense variant G/A;C snv 7.1E-03 0.010 1.000 1 2008 2008
dbSNP: rs529565
rs529565
ABO
13 0.851 0.120 9 133274084 intron variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs556266847
rs556266847
F5
1 1.000 0.040 1 169550655 missense variant A/G snv 0.010 1.000 1 1998 1998
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 2002 2002
dbSNP: rs747301897
rs747301897
ERCC2
3 1.000 0.040 19 45363999 synonymous variant G/A snv 7.1E-06 0.010 1.000 1 2011 2011
dbSNP: rs752714051
rs752714051
PC
1 1.000 0.040 11 66871317 missense variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs7586970
rs7586970
TFPI ; LOC105373786
2 0.925 0.040 2 187478770 missense variant T/C;G snv 0.29 0.010 1.000 1 2009 2009
dbSNP: rs762607581
rs762607581
F2
1 1.000 0.040 11 46739317 missense variant G/A snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs764948729
rs764948729
PLG
3 0.925 0.080 6 160731092 missense variant A/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs780533499
rs780533499
THBD
1 1.000 0.040 20 23048100 missense variant C/A;T snv 4.1E-06 0.010 1.000 1 2007 2007
dbSNP: rs9797861
rs9797861
SLC44A2
9 0.790 0.200 19 10632450 intron variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs773761677
rs773761677
PROC ; LOC105373608
1 1.000 0.040 2 127428444 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2014 2014
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: 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: rs369504169
rs369504169
PROC
3 0.925 0.120 2 127421337 missense variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 1 2019 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: rs1487411568
rs1487411568
SERPINC1 ; ZBTB37
2 0.925 0.120 1 173903969 missense variant G/A;T snv 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs747418061
rs747418061
APC
10 0.807 0.200 5 112828920 missense variant G/A snv 3.2E-05 7.0E-06 0.010 1.000 1 1998 1998
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: rs573703484
rs573703484
P4HB
1 1.000 0.040 17 81845659 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2015 2015
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: 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: 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