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: rs12256138
rs12256138
1 1.000 0.040 10 71336479 intron variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 < 0.001 1 2014 2014
dbSNP: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs12630592
rs12630592
5 0.851 0.080 3 120049399 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1364647619
rs1364647619
3 0.925 0.080 2 25161334 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs1409851868
rs1409851868
6 0.882 0.080 3 89399325 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs143830698
rs143830698
ACE
4 0.882 0.120 17 63488659 missense variant G/A snv 8.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1718119
rs1718119
21 0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1743963
rs1743963
4 0.882 0.120 6 134176537 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs174696
rs174696
3 0.925 0.080 22 19965653 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1763509
rs1763509
4 0.882 0.120 6 134233200 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2017 2017
dbSNP: rs1799889
rs1799889
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1800035
rs1800035
4 0.925 0.080 10 111078794 missense variant C/G;T snv 1.9E-03 0.010 < 0.001 1 2006 2006
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 2019 2019
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2009 2009
dbSNP: rs1818879
rs1818879
7 0.827 0.120 7 22733108 downstream gene variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1858232
rs1858232
4 0.882 0.080 1 162334048 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1937863
rs1937863
3 0.925 0.080 10 5009340 intron variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2020936
rs2020936
10 0.776 0.160 17 30223796 intron variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs2070951
rs2070951
9 0.776 0.320 4 148436862 splice region variant G/A;C snv 4.2E-06; 0.53 0.010 1.000 1 2015 2015
dbSNP: rs2072115
rs2072115
5 0.882 0.080 12 47751585 intron variant A/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs2072621
rs2072621
7 0.851 0.080 X 151177387 non coding transcript exon variant C/A;G snv 0.010 1.000 1 2015 2015