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: rs11639960
rs11639960
2 0.925 0.080 16 55499358 intron variant A/G snv 0.26 0.010 < 0.001 1 2008 2008
dbSNP: rs1207692596
rs1207692596
MPO
3 0.925 0.080 17 58280438 missense variant G/A;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs1258159645
rs1258159645
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs1569686
rs1569686
15 0.752 0.400 20 32779273 intron variant G/A;C;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs17301608
rs17301608
2 0.925 0.080 16 55484698 intron variant C/A;G;T snv 0.010 < 0.001 1 2008 2008
dbSNP: rs17576
rs17576
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 < 0.001 1 2018 2018
dbSNP: rs1799750
rs1799750
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 < 0.001 1 2018 2018
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 < 0.001 1 2011 2011
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 < 0.001 1 2014 2014
dbSNP: rs182052
rs182052
19 0.701 0.440 3 186842993 intron variant G/A snv 0.38 0.010 < 0.001 1 2015 2015
dbSNP: rs1983132
rs1983132
2 0.925 0.080 4 177298634 intron variant C/T snv 0.23 0.010 < 0.001 1 2011 2011
dbSNP: rs2010963
rs2010963
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 < 0.001 1 2014 2014
dbSNP: rs2082940
rs2082940
10 0.763 0.480 3 186856375 3 prime UTR variant T/A;C snv 0.010 < 0.001 1 2011 2011
dbSNP: rs2472297
rs2472297
9 0.882 0.160 15 74735539 intergenic variant C/T snv 0.16 0.010 < 0.001 1 2017 2017
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs2854746
rs2854746
14 0.752 0.200 7 45921046 missense variant G/A;C;T snv 0.38 0.010 < 0.001 1 2005 2005
dbSNP: rs34677
rs34677
2 0.925 0.080 5 33998663 missense variant C/A snv 0.13 0.11 0.010 < 0.001 1 2015 2015
dbSNP: rs34767364
rs34767364
NBN
20 0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 0.010 < 0.001 1 2006 2006
dbSNP: rs367590266
rs367590266
4 0.925 0.080 6 52797630 missense variant T/C snv 1.2E-05 7.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs369108477
rs369108477
2 0.925 0.080 8 16143592 synonymous variant G/A snv 0.010 < 0.001 1 2005 2005
dbSNP: rs370535310
rs370535310
3 0.925 0.080 9 78304854 missense variant C/T snv 2.1E-05 0.010 < 0.001 1 2013 2013
dbSNP: rs4072245
rs4072245
2 0.925 0.080 17 65536247 intron variant C/T snv 5.3E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs4410790
rs4410790
9 0.882 0.160 7 17244953 intron variant T/C snv 0.54 0.010 < 0.001 1 2017 2017
dbSNP: rs4988483
rs4988483
11 0.752 0.240 16 1079010 missense variant C/A snv 3.7E-02 3.7E-02 0.010 < 0.001 1 2009 2009
dbSNP: rs544190
rs544190
4 0.851 0.080 9 76763591 intron variant G/A snv 0.32 0.010 < 0.001 1 2018 2018