Source: ALL
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: 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: rs80356710
rs80356710
PRNP
3 0.925 0.040 20 4699655 stop gained T/G snv 0.010 1.000 1 2019 2019
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: rs1475170339
rs1475170339
IGFALS ; SPSB3
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs371557337
rs371557337
DCTN4
2 1.000 0.040 5 150733475 start lost T/C;G snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121918094
rs121918094
TTR
8 0.827 0.280 18 31592921 missense variant T/C snv 0.030 1.000 3 1999 2015
dbSNP: rs121918079
rs121918079
TTR
10 0.790 0.280 18 31595143 missense variant T/C snv 0.020 1.000 2 2007 2009
dbSNP: rs121918100
rs121918100
TTR
11 0.827 0.160 18 31595184 missense variant T/C snv 0.020 1.000 2 2003 2015
dbSNP: rs104894665
rs104894665
TTR
5 0.851 0.120 18 31593017 missense variant T/C snv 0.010 1.000 1 1999 1999
dbSNP: rs121913547
rs121913547
LYZ
7 0.807 0.200 12 69350192 missense variant T/C snv 0.010 1.000 1 1999 1999
dbSNP: rs121918088
rs121918088
TTR
4 0.851 0.120 18 31598631 missense variant T/C snv 0.010 1.000 1 2001 2001
dbSNP: rs12218
rs12218
SAA1
11 0.763 0.280 11 18269774 synonymous variant T/C snv 0.42 0.36 0.010 1.000 1 2015 2015
dbSNP: rs1335856860
rs1335856860
FAP
2 0.925 0.120 2 162183437 missense variant T/C snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1440063914
rs1440063914
KIDINS220
2 0.925 0.080 2 8779781 missense variant T/C snv 0.010 1.000 1 2001 2001
dbSNP: rs1454603223
rs1454603223
LYZ
1 1.000 0.040 12 69353160 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs201564694
rs201564694
APCS
3 0.882 0.120 1 159588626 missense variant T/C snv 0.010 1.000 1 2009 2009
dbSNP: rs2279590
rs2279590
CLU
5 0.851 0.200 8 27598736 non coding transcript exon variant T/C snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs63751039
rs63751039
APP
8 0.776 0.200 21 25891855 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs73069071
rs73069071
IAPP ; SLCO1A2
6 0.807 0.240 12 21357370 intron variant T/C snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs946880677
rs946880677
FAP
4 0.882 0.080 2 162224488 missense variant T/C snv 0.010 1.000 1 2005 2005
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: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.100 0.931 29 1998 2018
dbSNP: rs387906536
rs387906536
LYZ
6 0.851 0.200 12 69350215 missense variant T/A;C snv 0.030 1.000 3 2014 2019
dbSNP: rs121918068
rs121918068
TTR
6 0.882 0.200 18 31592983 missense variant T/A;C snv 0.020 1.000 2 2007 2017
dbSNP: rs121909612
rs121909612
FGA
6 0.807 0.160 4 154585795 missense variant T/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2000 2000