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: rs13181
rs13181
82 0.525 0.536 19 45351661 stop gained T/A,G snp 4.0E-06; 0.32 0.32 0.020 1.000 2 2015 2015
dbSNP: rs1799793
rs1799793
51 0.585 0.500 19 45364001 missense variant C/A,T snp 7.1E-06; 0.29 0.27 0.020 0.500 2 2013 2015
dbSNP: rs1800541
rs1800541
2 0.923 0.036 6 12288986 intergenic variant T/G snp 0.25 0.020 1.000 2 2014 2014
dbSNP: rs2070699
rs2070699
2 0.923 0.036 6 12292539 intron variant G/C,T snp 0.45 0.38 0.020 0.500 2 2014 2014
dbSNP: rs28934576
rs28934576
64 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.020 1.000 2 2007 2012
dbSNP: rs454006
rs454006
2 0.923 0.036 19 53886867 intron variant T/C snp 0.34 0.020 1.000 2 2015 2015
dbSNP: rs1005464
rs1005464
2 0.923 0.036 20 6775501 intron variant G/A snp 0.19 0.010 1.000 1 2015 2015
dbSNP: rs1042522
rs1042522
56 0.563 0.643 17 7676154 stop gained G/C,T snp 0.67 0.62 0.010 < 0.001 1 2007 2007
dbSNP: rs104886003
rs104886003
52 0.580 0.393 3 179218303 missense variant G/A,C snp 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs1056629
rs1056629
5 0.846 0.107 16 82148499 3 prime UTR variant T/C snp 0.14 0.010 1.000 1 2017 2017
dbSNP: rs1061970
rs1061970
2 0.923 0.036 17 50184491 3 prime UTR variant A/G snp 8.0E-04; 0.13 0.010 1.000 1 2014 2014
dbSNP: rs11540654
rs11540654
117 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs11615
rs11615
23 0.667 0.286 19 45420395 synonymous variant A/G snp 0.50 0.54 0.010 1.000 1 2013 2013
dbSNP: rs11866002
rs11866002
3 0.878 0.107 16 58553833 synonymous variant C/T snp 0.35 0.39 0.010 1.000 1 2015 2015
dbSNP: rs12190287
rs12190287
7 0.821 0.071 6 133893387 3 prime UTR variant C/G,T snp 0.31; 2.1E-03 0.010 1.000 1 2018 2018
dbSNP: rs121912664
rs121912664
31 0.667 0.357 17 7670699 missense variant C/A,G,T snp 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs121913279
rs121913279
68 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs121913282
rs121913282
3 0.923 0.036 3 179221072 missense variant A/C snp 0.010 < 0.001 1 2012 2012
dbSNP: rs121913499
rs121913499
34 0.630 0.464 2 208248389 missense variant G/A,C,T snp 0.010 1.000 1 2016 2016
dbSNP: rs1642785
rs1642785
3 0.878 0.036 17 7676483 5 prime UTR variant G/A,C,T snp 1.2E-05; 0.67; 2.8E-05 0.65 0.010 1.000 1 2007 2007
dbSNP: rs1690916
rs1690916
3 0.923 0.036 12 68841626 3 prime UTR variant G/A snp 0.37 0.010 1.000 1 2014 2014
dbSNP: rs1695
rs1695
100 0.510 0.679 11 67585218 missense variant A/G snp 0.34 0.35 0.010 1.000 1 2015 2015
dbSNP: rs17655
rs17655
39 0.611 0.500 13 102875652 missense variant G/C snp 0.28 0.30 0.010 1.000 1 2013 2013
dbSNP: rs1800372
rs1800372
3 0.923 0.036 17 7674892 synonymous variant T/A,C snp 1.3E-02 9.9E-03 0.010 1.000 1 2015 2015
dbSNP: rs1800449
rs1800449
LOX
15 0.707 0.250 5 122077513 missense variant C/A,T snp 4.0E-06; 0.17 0.17 0.010 1.000 1 2013 2013