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: rs1045644
rs1045644
1 14 30885890 missense variant C/G snv 0.56 0.51 0.010 1.000 1 2019 2019
dbSNP: rs10504361
rs10504361
1 8 62972541 intron variant G/A snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs1159057
rs1159057
1 4 65271097 intergenic variant C/T snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs200092345
rs200092345
2 8 19458576 missense variant T/C snv 1.2E-05 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs209709
rs209709
1 1 22551320 intergenic variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs28445017
rs28445017
1 6 31559979 downstream gene variant G/A;C snv 0.010 < 0.001 1 2016 2016
dbSNP: rs301927
rs301927
1 3 97627774 intron variant G/A snv 0.68 0.010 1.000 1 2019 2019
dbSNP: rs41268673
rs41268673
1 2 166284599 missense variant G/C;T snv 4.0E-06; 2.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs4737264
rs4737264
1 8 55198762 intron variant A/C snv 0.20 0.010 1.000 1 2013 2013
dbSNP: rs533235539
rs533235539
2 8 19405853 missense variant A/C snv 1.5E-04 9.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs62109459
rs62109459
1 19 35756909 missense variant C/G;T snv 1.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs74401238
rs74401238
1 2 166251875 missense variant C/G;T snv 8.5E-05; 2.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs748095370
rs748095370
1 X 71224215 missense variant G/A snv 2.3E-05 1.9E-05 0.010 1.000 1 2010 2010
dbSNP: rs768947688
rs768947688
1 15 101178712 missense variant A/G snv 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs7963521
rs7963521
1 12 73435176 intergenic variant C/T snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2006 2006
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.040 0.500 4 2006 2013
dbSNP: rs3025039
rs3025039
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.100 1.000 12 2008 2020
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.020 1.000 2 2009 2018
dbSNP: rs121918457
rs121918457
24 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs14259
rs14259
19 0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 0.010 1.000 1 2012 2012