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: rs440277
rs440277
NECTIN2
2 1.000 0.080 19 44857967 intron variant G/A snv 0.30 0.800 1.000 5 2009 2019
dbSNP: rs7561528
rs7561528
LOC105373605
3 0.882 0.080 2 127132061 intergenic variant G/A snv 0.28 0.820 1.000 5 2011 2017
dbSNP: rs769446
rs769446
APOE
6 0.882 0.120 19 44905371 upstream gene variant T/C snv 7.0E-02 0.740 1.000 5 2009 2018
dbSNP: rs9271192
rs9271192 		1 1.000 0.080 6 32610753 intergenic variant C/A snv 0.74 0.810 1.000 5 2013 2019
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.040 0.750 4 1998 2018
dbSNP: rs10498633
rs10498633
SLC24A4
2 0.925 0.080 14 92460608 intron variant G/T snv 0.19 0.800 1.000 4 2013 2019
dbSNP: rs1366541089
rs1366541089
CTSD
1 1.000 0.080 11 1754930 missense variant G/A snv 7.0E-06 0.040 0.500 4 2004 2015
dbSNP: rs17125944
rs17125944
FERMT2
3 0.882 0.160 14 52933911 intron variant T/C snv 8.6E-02 0.830 1.000 4 2013 2018
dbSNP: rs1871047
rs1871047
NECTIN2
2 1.000 0.080 19 44848489 intron variant A/G snv 0.31 0.700 1.000 4 2009 2014
dbSNP: rs193922916
rs193922916
APP
6 0.827 0.080 21 25897619 missense variant G/A;C snv 0.740 1.000 4 2009 2017
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.040 1.000 4 2008 2014
dbSNP: rs2282649
rs2282649
SORL1
1 1.000 0.080 11 121608249 non coding transcript exon variant C/T snv 0.27 0.040 1.000 4 2009 2019
dbSNP: rs2718058
rs2718058
EPDR1 ; GPR141
2 0.925 0.080 7 37801932 intron variant A/G;T snv 0.820 1.000 4 2013 2019
dbSNP: rs2965101
rs2965101 		6 1.000 0.080 19 44734556 intergenic variant T/C snv 0.34 0.700 1.000 4 2009 2012
dbSNP: rs405697
rs405697
TOMM40
1 1.000 0.080 19 44901434 3 prime UTR variant A/G;T snv 0.800 1.000 4 2011 2019
dbSNP: rs449647
rs449647
APOE
2 0.925 0.120 19 44905307 upstream gene variant A/T snv 0.21 0.730 1.000 4 2009 2018
dbSNP: rs4945261
rs4945261
GAB2
2 0.925 0.080 11 78279214 intron variant G/A snv 0.15 0.720 0.750 4 2007 2011
dbSNP: rs56131196
rs56131196
APOC1
6 0.925 0.160 19 44919589 downstream gene variant G/A snv 0.18 0.710 1.000 4 2014 2019
dbSNP: rs610932
rs610932
MS4A6A
5 0.851 0.080 11 60171834 downstream gene variant T/G snv 0.57 0.840 1.000 4 2011 2017
dbSNP: rs63750265
rs63750265
PSEN1
3 0.882 0.080 14 73186869 missense variant T/A;C;G snv 0.040 1.000 4 2002 2016
dbSNP: rs63750570
rs63750570
MAPT
8 0.827 0.120 17 46018629 missense variant G/A snv 0.040 1.000 4 1998 2017
dbSNP: rs641120
rs641120
SORL1
3 0.882 0.080 11 121510256 intron variant G/A snv 0.38 0.040 1.000 4 2013 2018
dbSNP: rs7254776
rs7254776
LOC107985305
1 1.000 0.080 19 44724478 intron variant T/C;G snv 0.800 1.000 4 2009 2018
dbSNP: rs754203
rs754203
CYP46A1
6 0.807 0.200 14 99691630 non coding transcript exon variant A/G snv 0.27 0.040 1.000 4 2006 2009
dbSNP: rs7920721
rs7920721
LOC105376412 ; LOC105376413
1 1.000 0.080 10 11678309 upstream gene variant A/G snv 0.31 0.810 1.000 4 2013 2019