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: 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: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.100 1.000 15 1999 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: rs77375493
rs77375493
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
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.050 0.600 5 2003 2017
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: rs4253417
rs4253417
F11
3 4 186277851 intron variant T/C;G snv 0.800 1.000 3 2011 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: 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
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.030 1.000 3 2003 2012
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: rs1208135
rs1208135
2 1 169454860 intron variant A/G;T snv 0.700 1.000 2 2011 2012
dbSNP: rs1208327
rs1208327
2 1 169327626 intron variant C/G;T snv 0.700 1.000 2 2011 2012
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2011 2016
dbSNP: rs387907201
rs387907201
F2
4 1.000 0.080 11 46739326 missense variant G/A;T snv 0.020 1.000 2 2016 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2003 2013
dbSNP: rs4602861
rs4602861
1 8 105578478 intron variant A/G;T snv 0.700 1.000 2 2015 2017
dbSNP: rs514659
rs514659
ABO
10 0.882 0.120 9 133266790 intron variant C/A;T snv 0.700 1.000 2 2011 2012
dbSNP: rs545971
rs545971
ABO
8 9 133267960 intron variant T/A;C snv 0.700 1.000 2 2011 2012
dbSNP: rs5985
rs5985
20 0.724 0.280 6 6318562 missense variant C/A;T snv 0.20; 2.4E-05 0.020 1.000 2 2006 2014
dbSNP: rs6009
rs6009
F5
3 1.000 0.080 1 169529596 intron variant T/A;C snv 0.94 0.700 1.000 2 2011 2012
dbSNP: rs6050
rs6050
FGA
10 0.827 0.120 4 154586438 missense variant T/A;C snv 0.29 0.710 1.000 2 2006 2011