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: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.060 0.833 6 2005 2017
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 2005 2015
dbSNP: rs1061624
rs1061624
8 0.776 0.320 1 12207208 3 prime UTR variant A/G snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs10889675
rs10889675
2 1.000 0.080 1 67256533 intron variant C/A snv 0.11 0.010 1.000 1 2012 2012
dbSNP: rs11247735
rs11247735
1 1.000 0.080 1 25804968 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 < 0.001 1 2009 2009
dbSNP: rs12733285
rs12733285
12 0.776 0.120 1 202952912 intron variant C/T snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs1342387
rs1342387
12 0.776 0.120 1 202945228 intron variant T/C snv 0.53 0.010 1.000 1 2011 2011
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2014 2014
dbSNP: rs1800947
rs1800947
CRP
28 0.683 0.440 1 159713648 splice region variant C/A;G;T snv 4.4E-05; 5.1E-02; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs20417
rs20417
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2072749
rs2072749
1 1.000 0.080 1 25804530 intron variant T/C snv 0.23 0.010 1.000 1 2012 2012
dbSNP: rs3219489
rs3219489
24 0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 0.010 1.000 1 2010 2010
dbSNP: rs35352891
rs35352891
5 0.827 0.200 1 45331729 missense variant G/A snv 3.8E-04 1.1E-04 0.010 1.000 1 2007 2007
dbSNP: rs3753584
rs3753584
10 0.827 0.080 1 11804529 5 prime UTR variant T/C snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs4659382
rs4659382
1 1.000 0.080 1 25808435 intron variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs4950928
rs4950928
33 0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs718391
rs718391
1 1.000 0.080 1 25799343 upstream gene variant C/G snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs730881833
rs730881833
6 0.827 0.160 1 45332242 missense variant C/A;T snv 4.0E-06; 2.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs7356
rs7356
2 1.000 0.080 1 27891589 3 prime UTR variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs7542081
rs7542081
2 1.000 0.080 1 67237570 intron variant C/A snv 0.56 0.010 1.000 1 2012 2012
dbSNP: rs1143623
rs1143623
29 0.677 0.440 2 112838252 upstream gene variant C/G snv 0.24 0.010 1.000 1 2018 2018
dbSNP: rs2228545
rs2228545
1 1.000 0.080 2 202555989 missense variant G/A snv 2.4E-02 2.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs5743030
rs5743030
1 1.000 0.080 2 189813819 intron variant G/A snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs5743100
rs5743100
1 1.000 0.080 2 189841127 intron variant G/T snv 9.2E-02 0.010 1.000 1 2019 2019