Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.100 0.938 32 1999 2019
dbSNP: rs1188383936
rs1188383936
F2
0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.100 0.947 19 1999 2018
dbSNP: rs751377893
rs751377893
F5
0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.100 1.000 13 1995 2019
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.100 1.000 12 1999 2010
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.080 1.000 8 2007 2014
dbSNP: rs6025
rs6025
F5
0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.060 1.000 6 1995 2020
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.050 1.000 5 2009 2019
dbSNP: rs1799963
rs1799963
F2
0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.040 1.000 4 2012 2020
dbSNP: rs747418061
rs747418061
APC
0.807 0.200 5 112828920 missense variant G/A snv 3.2E-05 7.0E-06
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.030 1.000 3 1997 2005
dbSNP: rs763351020
rs763351020
SERPINE1
0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.030 1.000 3 2005 2009
dbSNP: rs552953108
rs552953108
F2
0.724 0.200 11 46729529 missense variant G/A snv 1.6E-05 4.2E-05
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.020 1.000 2 1996 1999
dbSNP: rs1057910
rs1057910
CYP2C9
0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.010 1.000 1 2019 2019
dbSNP: rs1164821473
rs1164821473
F5
0.925 0.080 1 169546573 missense variant T/A;C snv
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.010 1.000 1 2017 2017
dbSNP: rs1183194405
rs1183194405
F2
0.716 0.440 11 46719773 missense variant G/A;T snv 4.5E-06; 4.5E-06
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.010 1.000 1 2019 2019
dbSNP: rs1194897557
rs1194897557
MTHFR
0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.010 1.000 1 2000 2000
dbSNP: rs121918027
rs121918027
PLG
0.827 0.320 6 160738593 missense variant G/A snv 1.4E-03 3.5E-04
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.010 1.000 1 2013 2013
dbSNP: rs121918472
rs121918472
PROS1
0.925 0.040 3 93879306 missense variant A/C;G snv 1.2E-05; 2.0E-03
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.010 1.000 1 2014 2014
dbSNP: rs1226052130
rs1226052130
ITGB3
0.925 0.120 17 47299308 missense variant G/A snv 4.0E-06
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.010 1.000 1 2019 2019
dbSNP: rs1276352833
rs1276352833
FGA
0.925 0.080 4 154586057 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.010 1.000 1 2016 2016
dbSNP: rs1312546120
rs1312546120
F5
0.807 0.160 1 169541191 missense variant T/C snv 4.0E-06
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.010 1.000 1 2018 2018
dbSNP: rs1314498183
rs1314498183
MTHFR
1.000 0.040 1 11803469 missense variant G/A snv 4.2E-06
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.010 1.000 1 2012 2012
dbSNP: rs13306190
rs13306190
APOB
0.807 0.320 2 21032408 missense variant G/A;C;T snv 1.7E-04; 8.0E-06
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.010 1.000 1 2018 2018
dbSNP: rs1371086615
rs1371086615
APC
0.851 0.120 5 112828890 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.010 1.000 1 2005 2005
dbSNP: rs146922325
rs146922325
PROC ; LOC105373608
0.851 0.160 2 127426114 missense variant C/T snv 7.5E-04 3.2E-04
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.010 1.000 1 2018 2018
dbSNP: rs1799853
rs1799853
CYP2C9
0.763 0.320 10 94942290 missense variant C/T snv 9.2E-02 8.9E-02
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.010 1.000 1 2019 2019