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: rs665640
rs665640
MLIP
1 1.000 0.080 6 54122584 intron variant T/A snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs6665
rs6665
MME
1 1.000 0.080 3 155183416 3 prime UTR variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs67327804
rs67327804
BIN1
1 1.000 0.080 2 127069056 intron variant A/G snv 0.30 0.33 0.010 1.000 1 2014 2014
dbSNP: rs7082306
rs7082306
CTNNA3 ; LRRTM3 ; LOC101928961
1 1.000 0.080 10 66990997 intron variant G/A snv 0.11 0.010 1.000 1 2012 2012
dbSNP: rs7179008
rs7179008
CHRNA7
1 1.000 0.080 15 32151722 intron variant A/G snv 0.22 0.010 1.000 1 2016 2016
dbSNP: rs754618480
rs754618480
ACE
1 1.000 0.080 17 63477951 synonymous variant C/T snv 4.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs754834233
rs754834233
BIN1
1 1.000 0.080 2 127059060 missense variant G/A snv 4.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs770461695
rs770461695
PICALM
1 1.000 0.080 11 85981991 missense variant A/G snv 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs770510230
rs770510230
ABCA7
1 1.000 0.080 19 1058155 stop gained G/T snv 2.0E-05 4.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs771608420
rs771608420
AKAP9
1 1.000 0.080 7 92001217 missense variant C/A;T snv 2.0E-05; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs772635342
rs772635342
PLD3
1 1.000 0.080 19 40376656 missense variant G/A snv 4.1E-05 4.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs775494528
rs775494528
BIN1
1 1.000 0.080 2 127057558 missense variant G/A snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs7856774
rs7856774 		1 1.000 0.080 9 87110354 regulatory region variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs7908652
rs7908652 		1 1.000 0.080 10 84032167 intergenic variant C/T snv 0.57 0.010 1.000 1 2011 2011
dbSNP: rs80001089
rs80001089
UNG
1 1.000 0.080 12 109099757 intron variant T/G snv 5.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs950809
rs950809
SORCS1
1 1.000 0.080 10 107035617 intron variant A/G snv 0.48 0.010 1.000 1 2013 2013
dbSNP: rs5984894
rs5984894
PCDH11X
2 0.925 0.080 X 92138738 intron variant A/G snv 0.54 0.030 1.000 3 2009 2010
dbSNP: rs137875858
rs137875858
UNC5C
2 0.925 0.080 4 95170280 missense variant G/A snv 2.9E-04 2.6E-04 0.020 1.000 2 2014 2016
dbSNP: rs145999145
rs145999145
PLD3
2 0.925 0.080 19 40371688 missense variant G/A snv 3.1E-03 3.6E-03 0.020 1.000 2 2018 2019
dbSNP: rs165932
rs165932
PSEN1
2 0.925 0.080 14 73198145 intron variant G/A;T snv 0.61 0.020 1.000 2 2006 2008
dbSNP: rs498055
rs498055 		2 0.925 0.080 10 95595157 non coding transcript exon variant C/A;G;T snv 0.39 0.020 0.500 2 2006 2008
dbSNP: rs689021
rs689021
SORL1
2 0.925 0.080 11 121500411 intron variant G/A snv 0.40 0.020 0.500 2 2015 2017
dbSNP: rs9331949
rs9331949
CLU ; EPHX2
2 0.925 0.080 8 27597169 3 prime UTR variant T/C snv 6.2E-02 4.7E-02 0.020 1.000 2 2013 2017
dbSNP: rs10498633
rs10498633
SLC24A4
2 0.925 0.080 14 92460608 intron variant G/T snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs1060743
rs1060743
BIN1
2 0.925 0.080 2 127068957 synonymous variant A/G snv 0.34 0.29 0.010 1.000 1 2014 2014