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 0.903 31 1997 2015
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.100 0.895 19 2000 2015
dbSNP: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.900 1.000 16 1997 2019
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.100 1.000 15 1999 2019
dbSNP: rs2066865
rs2066865
FGG
10 0.807 0.240 4 154604124 downstream gene variant G/A snv 0.26 0.860 0.900 10 2011 2019
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.100 1.000 10 1999 2019
dbSNP: rs1799963
rs1799963
F2
25 0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03 0.730 1.000 8 2012 2019
dbSNP: rs121918474
rs121918474
PROS1
11 0.763 0.320 3 93905799 missense variant T/C snv 2.8E-05 1.4E-05 0.060 1.000 6 2014 2019
dbSNP: rs552953108
rs552953108
F2
16 0.724 0.200 11 46729529 missense variant G/A snv 1.6E-05 4.2E-05 0.060 1.000 6 1999 2019
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.060 1.000 6 2008 2019
dbSNP: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.050 0.600 5 2003 2017
dbSNP: rs2036914
rs2036914
F11
5 0.882 0.160 4 186271327 intron variant T/C snv 0.57 0.830 1.000 5 2011 2019
dbSNP: rs2289252
rs2289252
F11 ; F11-AS1
4 1.000 0.040 4 186286227 non coding transcript exon variant C/T snv 0.35 0.740 1.000 5 2013 2019
dbSNP: rs78707713
rs78707713
TSPAN15
2 1.000 0.120 10 69485520 intron variant T/C snv 8.5E-02 0.710 0.800 5 2015 2020
dbSNP: rs2288904
rs2288904
SLC44A2
8 0.807 0.240 19 10631494 missense variant A/G snv 0.80 0.83 0.720 0.750 4 2015 2020
dbSNP: rs2519093
rs2519093
ABO
16 0.882 0.200 9 133266456 intron variant T/C snv 0.820 1.000 4 2011 2019
dbSNP: rs529565
rs529565
ABO
13 0.851 0.120 9 133274084 intron variant C/T snv 0.800 1.000 4 2011 2016
dbSNP: rs13146272
rs13146272
CYP4V2
3 1.000 0.040 4 186199057 missense variant C/A snv 0.57 0.61 0.030 1.000 3 2009 2019
dbSNP: rs147377392
rs147377392
THBD
11 0.763 0.120 20 23048144 missense variant A/G snv 1.0E-04 2.8E-04 0.030 0.667 3 2003 2013
dbSNP: rs1613662
rs1613662
GP6 ; LOC107985325
8 0.851 0.120 19 55025227 missense variant G/A snv 0.85 0.83 0.030 1.000 3 2009 2017
dbSNP: rs2227589
rs2227589
SERPINC1
3 0.925 0.120 1 173917078 intron variant C/T snv 9.6E-02 0.030 1.000 3 2013 2019
dbSNP: rs2420371
rs2420371
F5
4 1 169522317 intron variant G/A snv 0.95 0.700 1.000 3 2009 2012
dbSNP: rs3756008
rs3756008
F11
2 4 186264231 upstream gene variant A/T snv 0.36 0.810 1.000 3 2011 2014
dbSNP: rs4253417
rs4253417
F11
3 4 186277851 intron variant T/C;G snv 0.800 1.000 3 2011 2019
dbSNP: rs4524
rs4524
F5
3 1 169542517 missense variant T/C snv 0.28 0.24 0.710 1.000 3 2015 2019