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: 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
dbSNP: rs505922
rs505922
ABO
34 0.689 0.520 9 133273813 intron variant C/T snv 0.800 1.000 3 2009 2012
dbSNP: rs579459
rs579459 		28 0.752 0.320 9 133278724 upstream gene variant C/T snv 0.81 0.800 1.000 3 2011 2019
dbSNP: rs6427196
rs6427196
F5
3 1.000 0.080 1 169511985 3 prime UTR variant C/G;T snv 0.800 1.000 3 2011 2013
dbSNP: rs687289
rs687289
ABO
15 1.000 0.120 9 133261703 intron variant A/G snv 0.800 1.000 3 2011 2019
dbSNP: rs687621
rs687621
ABO
18 0.851 0.240 9 133261662 intron variant G/A;C snv 0.800 1.000 3 2011 2013
dbSNP: rs763351020
rs763351020
SERPINE1
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.030 1.000 3 2003 2012
dbSNP: rs8176719
rs8176719
ABO
6 0.925 0.120 9 133257521 frameshift variant -/C ins 0.37 0.35 0.830 1.000 3 2012 2019
dbSNP: rs925451
rs925451
F11
2 4 186266415 intron variant G/A snv 0.34 0.710 1.000 3 2010 2012
dbSNP: rs1018827
rs1018827
F5
2 1 169544768 intron variant A/G snv 0.92 0.800 1.000 2 2011 2012
dbSNP: rs10737547
rs10737547 		2 1 169506814 intergenic variant A/G snv 0.93 0.700 1.000 2 2011 2012
dbSNP: rs10886430
rs10886430
GRK5
3 10 119250744 intron variant A/G snv 8.8E-02 0.700 1.000 2 2019 2019
dbSNP: rs1183194405
rs1183194405
F2
19 0.716 0.440 11 46719773 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.020 1.000 2 1999 2007
dbSNP: rs1208134
rs1208134
CCDC181
2 1 169459706 intron variant C/T snv 0.93 0.700 1.000 2 2011 2012
dbSNP: rs1208135
rs1208135
CCDC181
2 1 169454860 intron variant A/G;T snv 0.700 1.000 2 2011 2012
dbSNP: rs1208327
rs1208327
NME7
2 1 169327626 intron variant C/G;T snv 0.700 1.000 2 2011 2012
dbSNP: rs12445050
rs12445050
PLCG2
3 16 81837364 intron variant C/T snv 9.6E-02 0.700 1.000 2 2019 2019
dbSNP: rs16861990
rs16861990
NME7
2 1 169165889 intron variant A/C snv 5.5E-02 0.800 1.000 2 2011 2012
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2011 2016
dbSNP: rs1894692
rs1894692 		2 1 169498416 non coding transcript exon variant G/A snv 0.98 0.700 1.000 2 2011 2012