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: 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: rs104894621
rs104894621
9 0.790 0.080 17 15239575 missense variant G/A snv 0.020 1.000 2 1998 1999
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: rs57105105
rs57105105
4 0.925 0.080 8 24953776 missense variant C/T snv 0.020 1.000 2 2004 2015
dbSNP: rs7349683
rs7349683
3 0.925 0.080 4 65332086 synonymous variant C/A;T snv 0.35 0.020 1.000 2 2013 2019
dbSNP: rs1043307
rs1043307
14 0.776 0.360 12 121915890 missense variant A/C;G snv 0.010 1.000 1 2014 2014
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: rs104894708
rs104894708
PRX
5 0.851 0.120 19 40395144 stop gained G/A snv 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1060503021
rs1060503021
3 0.925 0.080 7 76304077 stop gained GC/CT mnv 0.010 1.000 1 2012 2012
dbSNP: rs11154178
rs11154178
7 0.807 0.240 6 123540174 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs116840817
rs116840817
3 0.925 0.080 X 71223852 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs121908160
rs121908160
4 0.882 0.080 1 10258602 missense variant A/T snv 0.010 1.000 1 2004 2004
dbSNP: rs121909088
rs121909088
3 0.925 0.080 19 10819992 missense variant A/G snv 0.010 1.000 1 2009 2009
dbSNP: rs121909113
rs121909113
3 0.925 0.040 7 76303007 missense variant C/A snv 0.010 1.000 1 2013 2013
dbSNP: rs121913602
rs121913602
MPZ
5 0.851 0.120 1 161307308 missense variant T/A snv 0.010 1.000 1 1999 1999
dbSNP: rs121918312
rs121918312
11 0.776 0.160 10 119672373 missense variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs12722486
rs12722486
5 1.000 10 6061799 intron variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs137852643
rs137852643
3 0.925 0.080 7 30609729 missense variant G/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1393404971
rs1393404971
2 1.000 0.040 7 76302833 missense variant G/A;C snv 0.010 1.000 1 2015 2015
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
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs1553259662
rs1553259662
MPZ
7 0.827 0.200 1 161306821 missense variant A/G snv 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: rs267606772
rs267606772
3 0.925 0.080 19 10793799 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs28445017
rs28445017
1 6 31559979 downstream gene variant G/A;C snv 0.010 < 0.001 1 2016 2016