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: rs1906591
rs1906591
5 0.851 0.200 4 110787733 intergenic variant G/A snv 0.15 0.030 1.000 3 2010 2016
dbSNP: rs20417
rs20417
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.030 0.667 3 2006 2019
dbSNP: rs2107595
rs2107595
15 0.732 0.280 7 19009765 regulatory region variant G/A snv 0.19 0.710 0.667 3 2015 2018
dbSNP: rs2383206
rs2383206
17 0.742 0.320 9 22115027 intron variant A/G snv 0.49 0.030 1.000 3 2009 2019
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.030 0.667 3 2006 2015
dbSNP: rs3025058
rs3025058
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.030 0.667 3 2015 2018
dbSNP: rs4073259
rs4073259
4 0.882 0.160 13 30732134 intron variant G/A snv 0.49 0.030 0.333 3 2012 2019
dbSNP: rs505922
rs505922
ABO
34 0.689 0.520 9 133273813 intron variant C/T snv 0.720 1.000 3 2013 2018
dbSNP: rs529565
rs529565
ABO
13 0.851 0.120 9 133274084 intron variant C/T snv 0.720 0.667 3 2016 2018
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.030 0.667 3 1999 2005
dbSNP: rs918592
rs918592
2 1.000 0.080 5 60401476 intron variant C/T snv 0.36 0.030 0.667 3 2012 2016
dbSNP: rs9333025
rs9333025
8 0.851 0.200 1 46931231 intron variant C/T snv 9.4E-02 0.030 1.000 3 2015 2016
dbSNP: rs9579646
rs9579646
6 0.851 0.160 13 30736442 intron variant G/A;T snv 0.030 1.000 3 2007 2016
dbSNP: rs10887800
rs10887800
11 0.790 0.280 10 88316086 intron variant A/G;T snv 0.020 1.000 2 2013 2014
dbSNP: rs11196288
rs11196288
2 1.000 0.080 10 113297684 regulatory region variant A/G snv 5.5E-02 0.710 1.000 2 2016 2017
dbSNP: rs12204590
rs12204590
3 1.000 0.080 6 1337158 intergenic variant T/A snv 0.14 0.020 0.500 2 2016 2017
dbSNP: rs1330344
rs1330344
2 0.925 0.120 9 122369409 upstream gene variant C/T snv 0.69 0.020 1.000 2 2014 2019
dbSNP: rs1333040
rs1333040
15 0.732 0.280 9 22083405 intron variant C/G;T snv 0.020 1.000 2 2013 2016
dbSNP: rs1333042
rs1333042
7 0.827 0.120 9 22103814 intron variant A/G snv 0.63 0.020 1.000 2 2013 2016
dbSNP: rs152312
rs152312
3 0.925 0.080 5 60491989 non coding transcript exon variant G/A;T snv 0.020 0.500 2 2019 2020
dbSNP: rs1537378
rs1537378
4 0.882 0.160 9 22061615 intron variant A/G snv 0.73 0.020 1.000 2 2010 2015
dbSNP: rs16924159
rs16924159
1 1.000 0.080 9 6229417 intron variant G/A snv 0.28 0.020 1.000 2 2013 2019
dbSNP: rs17222814
rs17222814
1 1.000 0.080 13 30725416 intron variant G/A snv 6.9E-02 0.020 0.500 2 2008 2019
dbSNP: rs17321515
rs17321515
16 0.776 0.200 8 125474167 intron variant A/G snv 0.49 0.020 1.000 2 2011 2019
dbSNP: rs174546
rs174546
17 0.807 0.200 11 61802358 3 prime UTR variant C/T snv 0.28 0.020 1.000 2 2014 2015