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: rs63750756
rs63750756
MAPT
23 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.030 1.000 3 1999 2015
dbSNP: rs3764650
rs3764650
ABCA7
9 0.790 0.200 19 1046521 intron variant T/G snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
dbSNP: rs405509
rs405509
APOE
30 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 0.010 < 0.001 1 2019 2019
dbSNP: rs63749855
rs63749855
MAPT
8 0.790 0.200 17 46014271 missense variant T/G snv 0.010 1.000 1 2003 2003
dbSNP: rs63750802
rs63750802
PSEN1
7 0.851 0.080 14 73219144 missense variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.020 1.000 2 2014 2017
dbSNP: rs652438
rs652438
MMP12
14 0.716 0.400 11 102865911 missense variant T/C;G snv 7.1E-02; 2.5E-04 0.010 < 0.001 1 2018 2018
dbSNP: rs429358
rs429358
APOE
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.030 1.000 3 2001 2018
dbSNP: rs121918100
rs121918100
TTR
11 0.827 0.160 18 31595184 missense variant T/C snv 0.020 1.000 2 2009 2015
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.020 1.000 2 2014 2017
dbSNP: rs63751039
rs63751039
APP
8 0.776 0.200 21 25891855 missense variant T/C snv 0.020 1.000 2 2011 2012
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.020 1.000 2 2013 2018
dbSNP: rs11136000
rs11136000
CLU
19 0.752 0.160 8 27607002 intron variant T/C snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs112451138
rs112451138
PSEN1
2 0.925 0.080 14 73192667 missense variant T/C snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs12976445
rs12976445
SPACA6 ; MIRLET7E ; MIR125A ; SPACA6P-AS
20 0.689 0.600 19 51693200 non coding transcript exon variant T/C snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs1884049
rs1884049
ESR1
2 0.925 0.080 6 151966232 intron variant T/C snv 0.75 0.010 1.000 1 2014 2014
dbSNP: rs1997794
rs1997794
PDYN ; PDYN-AS1
4 0.851 0.120 20 1994212 5 prime UTR variant T/C snv 0.50 0.010 1.000 1 2009 2009
dbSNP: rs2276109
rs2276109
MMP12
18 0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs2618516
rs2618516
SPON1
3 0.882 0.080 11 14000092 intron variant T/C snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs2695121
rs2695121
NR1H2
16 0.716 0.280 19 50377484 5 prime UTR variant T/C snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs533667466
rs533667466
APP
3 0.925 0.080 21 25911912 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs6347
rs6347
SLC6A3
4 0.851 0.080 5 1411297 synonymous variant T/C snv 0.23 0.32 0.010 1.000 1 2012 2012
dbSNP: rs63749835
rs63749835
PSEN1
5 0.851 0.080 14 73192799 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs6489630
rs6489630
NTF3
3 0.882 0.080 12 5495458 intron variant T/C snv 0.75 0.010 1.000 1 2012 2012