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: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.800 0.941 17 1995 2019
dbSNP: rs16860992
rs16860992
HRG ; LOC105374258
3 1.000 0.080 3 186676249 intron variant G/C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs2038024
rs2038024
SLC19A2
2 1.000 0.080 1 169486744 non coding transcript exon variant C/A snv 0.88 0.700 1.000 1 2013 2013
dbSNP: rs2228243
rs2228243
HRG ; LOC105374258
3 1.000 0.080 3 186677324 missense variant A/G;T snv 0.20; 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs6009
rs6009
F5
3 1.000 0.080 1 169529596 intron variant T/A;C snv 0.94 0.700 1.000 1 2013 2013
dbSNP: rs6427196
rs6427196
F5
3 1.000 0.080 1 169511985 3 prime UTR variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs6682179
rs6682179
F5
2 1.000 0.080 1 169521163 intron variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs9898
rs9898
HRG ; LOC105374258
3 0.925 0.160 3 186672838 missense variant C/T snv 0.38 0.43 0.700 1.000 1 2013 2013
dbSNP: rs747418061
rs747418061
APC
10 0.807 0.200 5 112828920 missense variant G/A snv 3.2E-05 7.0E-06 0.070 1.000 7 1995 2010
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.060 0.833 6 2002 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.060 1.000 6 2000 2016
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.030 1.000 3 1995 2018
dbSNP: rs777692567
rs777692567
PLAT
5 0.827 0.200 8 42182845 missense variant G/A snv 4.0E-05 1.4E-05 0.020 1.000 2 2002 2005
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.020 1.000 2 1996 2018
dbSNP: rs118203906
rs118203906
F5
2 0.925 0.080 1 169555299 missense variant C/G snv 2.3E-04 7.7E-05 0.010 1.000 1 1998 1998
dbSNP: rs118203907
rs118203907
F5
3 0.882 0.080 1 169530805 missense variant T/C snv 1.6E-05 1.4E-05 0.010 1.000 1 2001 2001
dbSNP: rs118203911
rs118203911
F5
2 0.925 0.080 1 169552693 missense variant A/G snv 0.010 1.000 1 2003 2003
dbSNP: rs1253209514
rs1253209514
APC
1 1.000 0.080 5 112767200 missense variant G/C snv 0.010 1.000 1 2003 2003
dbSNP: rs1312546120
rs1312546120
F5
7 0.807 0.160 1 169541191 missense variant T/C snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1364012761
rs1364012761
APC
1 1.000 0.080 5 112827192 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 1998 1998
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: rs1482856709
rs1482856709
PROS1
3 0.925 0.080 3 93900887 missense variant G/A snv 0.010 1.000 1 1997 1997
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 1997 1997
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2010 2010