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: rs201564694
rs201564694
3 0.882 0.120 1 159588626 missense variant T/C snv 0.010 1.000 1 2009 2009
dbSNP: rs28940579
rs28940579
13 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.030 1.000 3 2004 2010
dbSNP: rs371425292
rs371425292
APP
10 0.763 0.160 21 25897627 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs4149584
rs4149584
24 0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs572842823
rs572842823
APP
11 0.763 0.160 21 25897626 missense variant T/A;G snv 0.010 1.000 1 2010 2010
dbSNP: rs63750526
rs63750526
10 0.776 0.160 14 73192832 missense variant C/A snv 0.010 1.000 1 2010 2010
dbSNP: rs763852444
rs763852444
APP
3 0.882 0.120 21 26112127 missense variant G/C snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs781049584
rs781049584
APP
18 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs104894664
rs104894664
TTR
6 0.882 0.120 18 31592959 missense variant G/A snv 0.030 1.000 3 2003 2011
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs950592627
rs950592627
APP
5 0.827 0.200 21 26090015 missense variant G/C snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1473654052
rs1473654052
2 0.925 0.080 X 118542729 missense variant A/C snv 9.5E-06 0.010 1.000 1 2012 2012
dbSNP: rs529782627
rs529782627
APP
3 0.882 0.120 21 26112051 missense variant C/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs62093482
rs62093482
TTR
1 1.000 0.040 18 31598936 3 prime UTR variant C/T snv 1.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs6656401
rs6656401
CR1
8 0.776 0.200 1 207518704 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs371792178
rs371792178
3 0.925 0.040 1 97699507 missense variant G/A;C snv 3.6E-05; 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs63751039
rs63751039
APP
8 0.776 0.200 21 25891855 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs79977247
rs79977247
TTR
9 0.776 0.200 18 31592975 missense variant T/C;G snv 0.020 0.500 2 2007 2014
dbSNP: rs121918094
rs121918094
TTR
8 0.827 0.280 18 31592921 missense variant T/C snv 0.030 1.000 3 1999 2015
dbSNP: rs121918100
rs121918100
TTR
11 0.827 0.160 18 31595184 missense variant T/C snv 0.020 1.000 2 2003 2015
dbSNP: rs12218
rs12218
11 0.763 0.280 11 18269774 synonymous variant T/C snv 0.42 0.36 0.010 1.000 1 2015 2015
dbSNP: rs1294297409
rs1294297409
TTR
1 1.000 0.040 18 31592996 missense variant C/A snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs376961112
rs376961112
GSN
4 0.851 0.240 9 121302059 missense variant G/A snv 4.0E-06 2.1E-05 0.010 1.000 1 2015 2015
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 2012 2016
dbSNP: rs121913549
rs121913549
LYZ
3 0.882 0.200 12 69350194 missense variant T/A snv 0.010 1.000 1 2016 2016