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: rs371425292
rs371425292
APP
10 0.763 0.160 21 25897627 missense variant C/A;T snv 8.0E-06 0.060 1.000 6 1995 2016
dbSNP: rs63750363
rs63750363
APP
1 1.000 0.080 21 25897642 missense variant C/G snv 1.2E-05 7.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs199887707
rs199887707
APP
3 0.882 0.080 21 25911840 missense variant C/T snv 3.8E-04 4.9E-04 0.010 < 0.001 1 2019 2019
dbSNP: rs1451944248
rs1451944248
APP
2 0.925 0.080 21 25975964 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs200487832
rs200487832
APP
1 1.000 0.080 21 25976000 missense variant C/G;T snv 8.0E-06 7.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs372702043
rs372702043
APP
2 0.925 0.120 21 25976006 missense variant G/A snv 4.0E-06 2.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs762508225
rs762508225
APP
2 0.925 0.080 21 26000044 missense variant T/G snv 4.0E-06 0.020 1.000 2 1996 2008
dbSNP: rs769757835
rs769757835
APP
1 1.000 0.080 21 26000117 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs557227002
rs557227002
APP
1 1.000 0.080 21 26000158 missense variant G/A snv 2.0E-04 4.9E-05 0.010 < 0.001 1 2019 2019
dbSNP: rs1302192564
rs1302192564
APP
2 0.925 0.080 21 26000164 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs779407819
rs779407819
APP
1 1.000 0.080 21 26021899 missense variant G/A snv 1.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs781049584
rs781049584
APP
18 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.040 1.000 4 1997 2007
dbSNP: rs1347585131
rs1347585131
APP
1 1.000 0.080 21 26021974 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs1220355764
rs1220355764
APP
2 0.925 0.080 21 26022037 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1396086494
rs1396086494
APP
6 0.851 0.080 21 26051069 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs372642708
rs372642708
APP
2 0.925 0.080 21 26051152 missense variant C/T snv 2.4E-05 9.8E-05 0.010 < 0.001 1 2019 2019
dbSNP: rs1231783932
rs1231783932
APP
11 0.763 0.120 21 26051171 missense variant T/A;C snv 1.2E-05 0.050 1.000 5 1997 2008
dbSNP: rs1459435816
rs1459435816
APP
1 1.000 0.080 21 26053249 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2000 2000
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2000 2000
dbSNP: rs1307925400
rs1307925400
APP
1 1.000 0.080 21 26112001 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs958576773
rs958576773
ITPR3
1 1.000 0.080 6 33662534 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs10524523
rs10524523
TOMM40
7 0.807 0.200 19 44899792 intron variant TTTTTTTTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT delins 0.010 1.000 1 2013 2013
dbSNP: rs779569800
rs779569800
APOE
1 1.000 0.080 19 44908714 missense variant G/A;C;T snv 1.3E-05; 6.3E-06; 6.3E-06 0.010 < 0.001 1 1997 1997
dbSNP: rs761592007
rs761592007
APOE
4 0.882 0.160 19 44909013 missense variant G/A snv 1.5E-05 0.020 1.000 2 2000 2012