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: rs970866
rs970866
B4GALT6
4 0.851 0.160 18 31681955 intron variant C/T snv 0.89 0.010 1.000 1 2019 2019
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: rs946880677
rs946880677
FAP
4 0.882 0.080 2 162224488 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs933476040
rs933476040
TTR
2 0.925 0.120 18 31595130 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs9331888
rs9331888
CLU ; MIR6843
5 0.827 0.200 8 27611345 5 prime UTR variant C/G snv 0.35 0.28 0.010 1.000 1 2016 2016
dbSNP: rs920832709
rs920832709
GSN
4 0.851 0.200 9 121321384 synonymous variant G/T snv 0.030 1.000 3 2002 2007
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: rs7982
rs7982
CLU
1 1.000 0.040 8 27604964 missense variant A/C;G snv 0.64 0.60 0.010 1.000 1 2016 2016
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: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.100 1.000 12 2001 2019
dbSNP: rs767006697
rs767006697
MEFV
2 0.925 0.080 16 3254658 frameshift variant C/- delins 0.010 1.000 1 2001 2001
dbSNP: rs766474822
rs766474822
VEGFA
2 0.925 0.080 6 43770990 missense variant G/A snv 1.4E-05 2.1E-05 0.010 1.000 1 2007 2007
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: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.050 0.600 5 2013 2017
dbSNP: rs759304648
rs759304648
GSN
9 0.790 0.240 9 121312479 synonymous variant G/A snv 8.0E-05 3.5E-05 0.030 1.000 3 2002 2007
dbSNP: rs745826707
rs745826707
RBM45
5 0.851 0.200 2 178112712 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs744373
rs744373 		8 0.851 0.160 2 127137039 downstream gene variant A/G snv 0.35 0.010 1.000 1 2016 2016
dbSNP: rs73956431
rs73956431
B4GALT6
6 0.827 0.120 18 31699870 regulatory region variant C/T snv 8.4E-02 0.010 1.000 1 2019 2019
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: rs6656401
rs6656401
CR1
8 0.776 0.200 1 207518704 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs63751039
rs63751039
APP
8 0.776 0.200 21 25891855 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs63750847
rs63750847
APP
8 0.790 0.120 21 25897620 missense variant C/T snv 4.5E-04 3.0E-04 0.010 1.000 1 2017 2017
dbSNP: rs63750526
rs63750526
PSEN1
10 0.776 0.160 14 73192832 missense variant C/A snv 0.010 1.000 1 2010 2010
dbSNP: rs63750231
rs63750231
PSEN1
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.010 1.000 1 2019 2019