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: rs7294919
rs7294919 		4 0.851 0.080 12 116889787 regulatory region variant T/C snv 0.19 0.010 1.000 1 2014 2014
dbSNP: rs759223338
rs759223338
BACE1 ; BACE1-AS
2 0.925 0.080 11 117291736 synonymous variant G/C snv 1.6E-05 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 2005 2019
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2017 2017
dbSNP: rs11613092
rs11613092 		1 1.000 0.080 12 118455443 intergenic variant C/T snv 7.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs2230345
rs2230345
GRK5
6 0.807 0.160 10 119326585 missense variant A/T snv 3.8E-02 9.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs334558
rs334558
GSK3B ; LOC107986119
20 0.701 0.320 3 120094435 upstream gene variant A/G snv 0.51 0.010 1.000 1 2011 2011
dbSNP: rs2160525
rs2160525
LRP6 ; BCL2L14
1 1.000 0.080 12 12117356 3 prime UTR variant A/G snv 0.82 0.010 1.000 1 2017 2017
dbSNP: rs536360
rs536360
SORL1
1 1.000 0.080 11 121457328 intron variant C/A;T snv 0.52 0.010 1.000 1 2007 2007
dbSNP: rs661057
rs661057
SORL1
1 1.000 0.080 11 121458245 intron variant T/C snv 0.40 0.010 1.000 1 2009 2009
dbSNP: rs11218304
rs11218304
SORL1 ; LOC105369535
2 0.925 0.080 11 121478402 intron variant A/G snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs12364988
rs12364988
SORL1
1 1.000 0.080 11 121496917 missense variant T/A;C;G snv 0.49; 4.0E-06 0.010 1.000 1 2009 2009
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: rs641120
rs641120
SORL1
3 0.882 0.080 11 121510256 intron variant G/A snv 0.38 0.010 1.000 1 2009 2009
dbSNP: rs556349
rs556349
SORL1
1 1.000 0.080 11 121555498 intron variant T/A;G snv 0.010 1.000 1 2007 2007
dbSNP: rs11218343
rs11218343
SORL1
2 0.925 0.080 11 121564878 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs2070045
rs2070045
SORL1
4 0.851 0.080 11 121577381 synonymous variant T/G snv 0.32 0.23 0.020 1.000 2 2014 2015
dbSNP: rs3824966
rs3824966
SORL1
1 1.000 0.080 11 121577474 intron variant C/G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs1699102
rs1699102
SORL1
3 0.882 0.080 11 121586253 missense variant C/G;T snv 3.2E-05; 0.53 0.010 1.000 1 2017 2017
dbSNP: rs2276412
rs2276412
SORL1
1 1.000 0.080 11 121590137 missense variant C/G;T snv 4.0E-06; 3.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs1784933
rs1784933
SORL1
3 0.882 0.080 11 121618707 intron variant G/A snv 0.84 0.020 1.000 2 2015 2017
dbSNP: rs17125548
rs17125548
SORL1
1 1.000 0.080 11 121618854 synonymous variant G/A snv 3.8E-02 9.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 < 0.001 1 2011 2011