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: rs1010159
rs1010159
SORL1
3 0.882 0.080 11 121612692 non coding transcript exon variant C/T snv 0.55 0.55 0.040 1.000 4 2009 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: rs145999145
rs145999145
PLD3
2 0.925 0.080 19 40371688 missense variant G/A snv 3.1E-03 3.6E-03 0.040 1.000 4 2014 2018
dbSNP: rs1859788
rs1859788
PILRA
3 0.925 0.080 7 100374211 missense variant A/C;G snv 4.0E-06; 0.65 0.720 1.000 4 2018 2019
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: 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: rs3824968
rs3824968
SORL1
2 0.925 0.080 11 121605213 synonymous variant T/A snv 0.39 0.29 0.040 1.000 4 2009 2016
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: 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: 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: 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: 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
dbSNP: rs8103315
rs8103315
BCL3
2 1.000 0.080 19 44750911 intron variant C/A snv 9.1E-02 0.800 1.000 4 2011 2018
dbSNP: rs9349407
rs9349407
CD2AP
2 1.000 0.080 6 47485642 intron variant G/C snv 0.23 0.830 1.000 4 2011 2015
dbSNP: rs10119
rs10119
TOMM40
5 0.925 0.080 19 44903416 3 prime UTR variant G/A snv 0.28 0.700 1.000 3 2009 2012
dbSNP: rs10793294
rs10793294
GAB2
1 1.000 0.080 11 78285357 intron variant C/A;G snv 0.710 1.000 3 2007 2011
dbSNP: rs10948363
rs10948363
CD2AP
1 1.000 0.080 6 47520026 intron variant A/G snv 0.23 0.800 1.000 3 2013 2019
dbSNP: rs115550680
rs115550680
ABCA7
1 1.000 0.080 19 1050421 intron variant A/G snv 1.7E-02 0.830 0.667 3 2013 2019
dbSNP: rs11610206
rs11610206
LOC105369746
2 0.925 0.080 12 47245743 intron variant T/C snv 9.7E-02 0.800 1.000 3 2009 2011