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: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.100 0.966 29 1996 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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 1.000 5 1999 2012
dbSNP: rs1312546120
rs1312546120
F5
7 0.807 0.160 1 169541191 missense variant T/C snv 4.0E-06 0.020 1.000 2 2004 2019
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.020 1.000 2 2012 2016
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: 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: rs779829591
rs779829591
F3
5 0.827 0.320 1 94532395 missense variant G/A snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs780767010
rs780767010
MTHFR
1 1.000 0.080 1 11796282 missense variant G/A snv 8.0E-06 0.010 1.000 1 2011 2011
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: 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 2015 2015
dbSNP: rs1482856709
rs1482856709
PROS1
3 0.925 0.080 3 93900887 missense variant G/A snv 0.010 1.000 1 1997 1997
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: rs2066865
rs2066865
FGG
10 0.807 0.240 4 154604124 downstream gene variant G/A snv 0.26 0.010 1.000 1 2012 2012
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: 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: 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: 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: rs765557332
rs765557332
APC
4 0.851 0.120 5 112835075 missense variant G/A snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs878853423
rs878853423
APC
4 0.851 0.120 5 112837663 missense variant G/A snv 0.010 1.000 1 2010 2010
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: 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