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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.932 59 1996 2019
dbSNP: rs1799889
rs1799889
SERPINE1
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs268
rs268
LPL
41 0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 0.010 1.000 1 2006 2006
dbSNP: rs766760828
rs766760828
PLA2G6
1 1.000 0.080 22 38140060 missense variant A/G snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs780225764
rs780225764
F2
2 1.000 0.080 11 46726797 missense variant A/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs141012637
rs141012637
SERPINB2 ; SERPINB10
4 0.851 0.320 18 63901881 stop gained C/A;T snv 7.0E-05 0.020 0.500 2 2009 2015
dbSNP: rs575231506
rs575231506
ADD1
2 0.925 0.160 4 2894667 missense variant C/A;T snv 4.1E-06; 4.1E-06 0.010 1.000 1 2006 2006
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.100 0.912 34 1998 2019
dbSNP: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.100 0.938 16 1997 2019
dbSNP: rs763351020
rs763351020
SERPINE1
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.040 0.750 4 2006 2015
dbSNP: rs121908686
rs121908686
PLA2G6 ; BAIAP2L2
6 0.882 0.120 22 38112558 missense variant C/T snv 9.0E-05 0.010 1.000 1 2005 2005
dbSNP: rs370975770
rs370975770
PLA2G6
1 1.000 0.080 22 38115666 missense variant C/T snv 8.9E-06 2.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs3789683
rs3789683
F3
3 0.925 0.200 1 94530506 missense variant C/T snv 6.5E-03 1.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs749785846
rs749785846
FGB
2 0.925 0.160 4 154568469 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs552953108
rs552953108
F2
16 0.724 0.200 11 46729529 missense variant G/A snv 1.6E-05 4.2E-05 0.100 1.000 12 1998 2019
dbSNP: rs747418061
rs747418061
APC
10 0.807 0.200 5 112828920 missense variant G/A snv 3.2E-05 7.0E-06 0.040 1.000 4 1995 2017
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 0.500 2 1999 1999
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 1997 2012
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 2001 2001
dbSNP: rs1369837875
rs1369837875
PLA2G6
4 0.882 0.200 22 38128276 synonymous variant G/A snv 0.010 1.000 1 2005 2005
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 2010 2010
dbSNP: rs1431515214
rs1431515214
APC
2 0.925 0.080 5 112839790 missense variant G/A snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs144246695
rs144246695
HPSE
4 0.851 0.160 4 83310887 missense variant G/A snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1482856709
rs1482856709
PROS1
3 0.925 0.080 3 93900887 missense variant G/A snv 0.010 1.000 1 1997 1997
dbSNP: rs1799963
rs1799963
F2
25 0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03 0.010 1.000 1 2016 2016