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: rs1799983
rs1799983
138 0.475 0.786 7 150999023 missense variant T/A,G snp 0.75 0.76 0.020 0.500 2 2009 2016
dbSNP: rs1805087
rs1805087
MTR
75 0.538 0.679 1 236885200 missense variant A/G snp 0.20 0.21 0.020 0.500 2 1997 1999
dbSNP: rs397507444
rs397507444
169 0.457 0.714 1 11794407 missense variant T/G snp 0.020 1.000 2 2001 2008
dbSNP: rs854560
rs854560
51 0.599 0.500 7 95316772 missense variant A/C,G,N,T snp 0.29 0.29 0.020 1.000 2 2000 2002
dbSNP: rs1051266
rs1051266
28 0.647 0.500 21 45537880 missense variant T/C,G snp 0.55; 4.4E-06 0.51 0.010 1.000 1 2006 2006
dbSNP: rs1061170
rs1061170
CFH
53 0.575 0.607 1 196690107 missense variant C/T snp 0.68 0.63 0.010 < 0.001 1 2006 2006
dbSNP: rs1122608
rs1122608
13 0.784 0.071 19 11052925 intron variant G/T snp 0.18 0.010 1.000 1 2015 2015
dbSNP: rs11591147
rs11591147
21 0.699 0.143 1 55039974 missense variant G/A,T snp 1.2E-02 1.4E-02 0.010 < 0.001 1 2008 2008
dbSNP: rs1333049
rs1333049
30 0.715 0.286 9 22125504 intergenic variant G/C snp 0.41 0.010 1.000 1 2012 2012
dbSNP: rs148538950
rs148538950
TTR
1 18 31598599 missense variant G/A snp 3.6E-05 3.5E-04 0.010 1.000 1 2013 2013
dbSNP: rs1501299
rs1501299
28 0.647 0.536 3 186853334 intron variant G/C,T snp 6.4E-05; 0.30 0.010 < 0.001 1 2006 2006
dbSNP: rs1801133
rs1801133
86 0.533 0.714 1 11796321 missense variant G/A snp 0.31 0.26 0.010 1.000 1 2005 2005
dbSNP: rs1801394
rs1801394
60 0.577 0.643 5 7870860 missense variant A/G snp 0.47 0.46 0.010 < 0.001 1 2009 2009
dbSNP: rs2227721
rs2227721
3 0.923 0.036 17 28370430 5 prime UTR variant C/A snp 0.12 0.010 1.000 1 2014 2014
dbSNP: rs2968915
rs2968915
4 1.000 0.036 X 40580182 intron variant G/A snp 0.85 0.010 1.000 1 2011 2011
dbSNP: rs313158
rs313158
2 1.000 0.071 6 85334045 intergenic variant A/T snp 1.6E-02 0.010 < 0.001 1 2009 2009
dbSNP: rs34203073
rs34203073
2 1.000 0.036 5 77035624 missense variant G/A snp 1.0E-02 8.9E-03 0.010 1.000 1 2006 2006
dbSNP: rs3764261
rs3764261
19 0.769 0.179 16 56959412 intergenic variant C/A snp 0.31 0.010 < 0.001 1 2016 2016
dbSNP: rs387906592
rs387906592
6 0.878 0.107 10 88941309 missense variant C/T snp 0.010 1.000 1 2012 2012
dbSNP: rs4291
rs4291
ACE
13 0.784 0.107 17 63476833 regulatory region variant T/A,C snp 0.64 0.010 1.000 1 2011 2011
dbSNP: rs4746
rs4746
10 0.769 0.250 6 38682852 missense variant T/A,G snp 0.36 0.38 0.010 1.000 1 2010 2010
dbSNP: rs5049
rs5049
AGT
4 1.000 0.036 1 230714337 intron variant C/T snp 0.16 0.010 1.000 1 2011 2011
dbSNP: rs505151
rs505151
12 0.769 0.214 1 55063514 missense variant G/A snp 0.95 0.89 0.010 1.000 1 2008 2008
dbSNP: rs5443
rs5443
65 0.570 0.571 12 6845711 synonymous variant C/T snp 0.36 0.43 0.010 1.000 1 2009 2009
dbSNP: rs579459
rs579459
23 0.784 0.107 9 133278724 regulatory region variant C/T snp 0.20 0.010 1.000 1 2015 2015