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: rs10020432
rs10020432
AFP
2 0.923 0.071 4 73455883 3 prime UTR variant A/G snp 0.56 0.010 1.000 1 2010 2010
dbSNP: rs1012068
rs1012068
4 0.846 0.143 22 31869917 intron variant T/G snp 0.37 0.020 1.000 2 2015 2016
dbSNP: rs1127354
rs1127354
21 0.685 0.321 20 3213196 missense variant C/A,G snp 7.5E-02 7.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs1140409
rs1140409
2 0.923 0.071 17 64500552 missense variant A/C snp 5.4E-02 5.6E-02 0.010 1.000 1 2010 2010
dbSNP: rs11554495
rs11554495
19 0.699 0.286 12 52904798 missense variant C/A snp 4.9E-03 5.1E-03 0.010 1.000 1 2003 2003
dbSNP: rs12104272
rs12104272
2 0.923 0.071 19 49644795 intron variant G/A snp 0.43 0.010 1.000 1 2014 2014
dbSNP: rs12304647
rs12304647
4 0.846 0.143 12 53991163 intron variant A/C snp 0.25 0.010 1.000 1 2016 2016
dbSNP: rs12979860
rs12979860
47 0.608 0.500 19 39248147 intron variant C/T snp 0.38 0.050 0.800 5 2011 2017
dbSNP: rs137853590
rs137853590
3 0.878 0.143 16 30751140 stop gained C/T snp 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs1695
rs1695
100 0.510 0.679 11 67585218 missense variant A/G snp 0.34 0.35 0.010 1.000 1 2005 2005
dbSNP: rs1799945
rs1799945
152 0.475 0.679 6 26090951 missense variant C/G snp 0.11 9.9E-02 0.080 0.875 8 2001 2005
dbSNP: rs1799969
rs1799969
20 0.679 0.500 19 10284116 missense variant G/A snp 0.11 0.10 0.010 1.000 1 2008 2008
dbSNP: rs1800562
rs1800562
175 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.100 0.895 19 2000 2015
dbSNP: rs1800730
rs1800730
18 0.685 0.393 6 26090957 missense variant A/T snp 1.0E-02 1.0E-02 0.010 1.000 1 2004 2004
dbSNP: rs2287622
rs2287622
16 0.707 0.179 2 168973818 missense variant A/C,G,T snp 0.57 0.57 0.010 1.000 1 2011 2011
dbSNP: rs2289030
rs2289030
3 0.878 0.107 12 94834510 non coding transcript exon variant G/C snp 9.7E-02 6.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs2298839
rs2298839
AFP
2 0.923 0.071 4 73445127 splice region variant A/G,T snp 0.54 0.54 0.010 1.000 1 2010 2010
dbSNP: rs236918
rs236918
7 0.846 0.143 11 117220893 non coding transcript exon variant G/A,C snp 0.15 0.010 1.000 1 2015 2015
dbSNP: rs2596542
rs2596542
10 0.756 0.143 6 31398818 intergenic variant C/T snp 0.38 0.010 < 0.001 1 2014 2014
dbSNP: rs28934571
rs28934571
14 0.744 0.179 17 7674216 missense variant C/A,G snp 0.020 1.000 2 2012 2013
dbSNP: rs3077
rs3077
12 0.734 0.321 6 33065245 3 prime UTR variant A/G snp 0.28 0.010 < 0.001 1 2011 2011
dbSNP: rs36084323
rs36084323
5 0.821 0.179 2 241859444 regulatory region variant C/T snp 5.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs368234815
rs368234815
9 0.769 0.143 19 39248514 frameshift variant CTT/C,CG in-del 0.010 1.000 1 2016 2016
dbSNP: rs377254261
rs377254261
3 0.878 0.107 6 26090874 missense variant C/T snp 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs4074
rs4074
7 0.801 0.179 4 73870427 intron variant A/G snp 0.49 0.020 1.000 2 2012 2014