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: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs7022797
rs7022797
3 0.882 0.120 9 88989548 upstream gene variant T/G snv 0.38 0.010 < 0.001 1 2013 2013
dbSNP: rs653765
rs653765
10 0.763 0.240 15 58749813 upstream gene variant T/C;G snv 0.45 0.020 1.000 2 2015 2019
dbSNP: rs374520012
rs374520012
LBP
3 0.882 0.120 20 38373994 missense variant T/C;G snv 8.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2010 2016
dbSNP: rs1915087
rs1915087
2 0.925 0.080 3 122119944 3 prime UTR variant T/C snv 0.020 1.000 2 2015 2018
dbSNP: rs2232618
rs2232618
LBP
5 0.851 0.160 20 38373117 missense variant T/C snv 9.2E-02 0.12 0.020 1.000 2 2012 2018
dbSNP: rs3804099
rs3804099
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.020 1.000 2 2010 2011
dbSNP: rs10506481
rs10506481
3 0.882 0.080 12 66250331 3 prime UTR variant T/C snv 9.0E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs121918094
rs121918094
TTR
8 0.827 0.280 18 31592921 missense variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs17036188
rs17036188
3 0.882 0.120 3 12299426 intron variant T/C snv 4.0E-02 0.010 1.000 1 2018 2018
dbSNP: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2018 2018
dbSNP: rs2721068
rs2721068
4 0.882 0.160 13 40565575 intron variant T/C snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs2972164
rs2972164
3 0.925 0.080 3 12292917 intron variant T/C snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs352162
rs352162
3 0.882 0.160 3 52218953 non coding transcript exon variant T/C snv 0.55 0.010 1.000 1 2011 2011
dbSNP: rs353291
rs353291
6 0.807 0.200 5 149431183 non coding transcript exon variant T/C snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs4957796
rs4957796
FER
5 0.851 0.120 5 109066439 intron variant T/C snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs510432
rs510432
11 0.752 0.280 6 106326155 upstream gene variant T/C snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs1554162524
rs1554162524
4 0.882 0.160 6 79925034 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.030 0.667 3 2009 2014
dbSNP: rs2332096
rs2332096
2 0.925 0.080 3 122102296 intron variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs5743551
rs5743551
12 0.742 0.240 4 38806033 intron variant T/A;C snv 0.020 1.000 2 2014 2016
dbSNP: rs2839693
rs2839693
3 0.882 0.120 10 44379119 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs2234237
rs2234237
9 0.763 0.280 6 41282728 missense variant T/A snv 0.13 0.12 0.020 0.500 2 2012 2019
dbSNP: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.010 1.000 1 2020 2020