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: rs141322087
rs141322087
12 0.846 0.143 11 17404552 missense variant C/T snp 1.2E-05 3.2E-05 0.700 1 2015 2015
dbSNP: rs1801253
rs1801253
19 0.707 0.214 10 114045297 missense variant G/C snp 0.74 0.70 0.080 1.000 8 2003 2013
dbSNP: rs1799983
rs1799983
138 0.475 0.786 7 150999023 missense variant T/A,G snp 0.75 0.76 0.050 1.000 5 2009 2016
dbSNP: rs1801252
rs1801252
10 0.756 0.179 10 114044277 missense variant A/G snp 0.15 0.17 0.030 0.667 3 2001 2013
dbSNP: rs1042714
rs1042714
38 0.634 0.464 5 148826910 stop gained G/C,T snp 0.68 0.67 0.020 1.000 2 2009 2011
dbSNP: rs1800888
rs1800888
19 0.707 0.321 5 148827322 missense variant C/T snp 9.1E-03 7.2E-03 0.020 1.000 2 2001 2007
dbSNP: rs5443
rs5443
65 0.570 0.571 12 6845711 synonymous variant C/T snp 0.36 0.43 0.020 1.000 2 2010 2015
dbSNP: rs1042713
rs1042713
38 0.622 0.571 5 148826877 missense variant G/A snp 0.42 0.43 0.010 1.000 1 2007 2007
dbSNP: rs10455872
rs10455872
LPA
23 0.707 0.179 6 160589086 intron variant A/G snp 4.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs104894422
rs104894422
10 0.784 0.214 13 23324513 missense variant G/A snp 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1056892
rs1056892
4 1.000 0.036 21 36146408 missense variant G/A snp 0.37 0.38 0.010 1.000 1 2008 2008
dbSNP: rs1061622
rs1061622
16 0.699 0.464 1 12192898 missense variant T/G snp 0.22 0.22 0.010 < 0.001 1 2013 2013
dbSNP: rs10757278
rs10757278
15 0.724 0.143 9 22124478 intergenic variant A/G snp 0.40 0.010 1.000 1 2009 2009
dbSNP: rs10927887
rs10927887
3 0.923 0.036 1 16024780 missense variant A/C,G snp 0.55 0.60 0.010 1.000 1 2011 2011
dbSNP: rs111033560
rs111033560
9 0.784 0.071 6 118559037 stop gained T/G snp 1.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs1249958
rs1249958
2 0.923 0.036 12 54582053 missense variant C/T snp 0.99 0.97 0.010 1.000 1 2016 2016
dbSNP: rs12567209
rs12567209
6 0.801 0.071 1 162066689 intergenic variant G/A snp 8.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs13058338
rs13058338
2 1.000 0.036 22 37236730 intron variant T/A,G snp 0.20; 4.0E-03 0.010 1.000 1 2013 2013
dbSNP: rs150821281
rs150821281
6 0.821 0.071 12 32878461 missense variant G/A snp 2.3E-03 1.9E-03 0.010 1.000 1 2016 2016
dbSNP: rs1739843
rs1739843
4 0.878 0.036 1 16016759 intron variant T/C snp 0.63 0.010 1.000 1 2010 2010
dbSNP: rs17740607
rs17740607
HDC
2 0.923 0.143 15 50263347 missense variant G/A,C snp 8.5E-02; 4.0E-06 8.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs17859821
rs17859821
2 1.000 0.036 16 55478141 intron variant G/A snp 0.11 0.010 1.000 1 2009 2009
dbSNP: rs1799752
rs1799752
ACE
11 0.756 0.286 17 63488529 intron variant T/TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC,TG in-del 0.010 1.000 1 2014 2014
dbSNP: rs1799945
rs1799945
152 0.475 0.679 6 26090951 missense variant C/G snp 0.11 9.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs1799998
rs1799998
9 0.784 0.071 8 142918184 intergenic variant A/G snp 0.39 0.010 1.000 1 2014 2014