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: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.010 < 0.001 1 2015 2015
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 < 0.001 1 2015 2015
dbSNP: rs700651
rs700651
2 1.000 0.080 2 197766990 intron variant G/A snv 0.73 0.010 < 0.001 1 2012 2012
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs705381
rs705381
2 1.000 0.080 7 95324637 upstream gene variant T/C snv 0.72 0.010 < 0.001 1 2013 2013
dbSNP: rs7201
rs7201
4 0.925 0.160 16 55505702 3 prime UTR variant A/C snv 0.37 0.010 < 0.001 1 2018 2018
dbSNP: rs8176668
rs8176668
ABO
2 9 133268647 intron variant A/T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs918592
rs918592
2 1.000 0.080 5 60401476 intron variant C/T snv 0.36 0.010 < 0.001 1 2006 2006
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 < 0.001 1 2019 2019
dbSNP: rs976683
rs976683
1 3 173767581 intron variant C/T snv 0.62 0.010 < 0.001 1 2013 2013
dbSNP: rs1333040
rs1333040
15 0.732 0.280 9 22083405 intron variant C/G;T snv 0.020 0.500 2 2012 2013
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.020 0.500 2 2000 2014
dbSNP: rs3783613
rs3783613
6 0.851 0.200 1 100731231 missense variant G/A;C snv 4.0E-06; 9.9E-03 0.020 0.500 2 2002 2015
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 0.500 2 2005 2005
dbSNP: rs76863441
rs76863441
25 0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03 0.020 0.500 2 1997 2016
dbSNP: rs11196288
rs11196288
2 1.000 0.080 10 113297684 regulatory region variant A/G snv 5.5E-02 0.030 0.667 3 2016 2019
dbSNP: rs11833579
rs11833579
6 0.827 0.200 12 666033 upstream gene variant G/A snv 0.25 0.100 0.727 11 2010 2019
dbSNP: rs10757278
rs10757278
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.040 0.750 4 2009 2012
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.789 19 2008 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.789 19 2008 2019
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.060 0.833 6 2005 2016
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.780 0.875 8 2007 2018
dbSNP: rs12425791
rs12425791
4 0.882 0.120 12 674318 downstream gene variant G/A;C snv 0.890 0.900 10 2009 2016
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.914 58 1998 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.080 1.000 8 2006 2018