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: rs1012381950
rs1012381950
POLB
1 1.000 0.080 8 42353758 intron variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs10197851
rs10197851
HPCAL1
1 1.000 0.080 2 10345283 intron variant A/G snv 0.52 0.010 1.000 1 2011 2011
dbSNP: rs1035071612
rs1035071612
LDLR ; MIR6886
9 0.763 0.240 19 11113361 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs10410544
rs10410544
SIRT2
6 0.827 0.120 19 38894892 intron variant T/C snv 0.68 0.67 0.010 1.000 1 2014 2014
dbSNP: rs10410711
rs10410711
ZNF566
1 1.000 0.080 19 36449796 synonymous variant A/G snv 3.3E-02 3.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs10421862
rs10421862
ZNF566
1 1.000 0.080 19 36474174 intron variant G/T snv 0.10 0.010 1.000 1 2015 2015
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: rs1050283
rs1050283
OLR1
4 0.882 0.160 12 10159690 3 prime UTR variant G/A snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs1050286
rs1050286
OLR1
3 0.882 0.160 12 10158964 3 prime UTR variant T/C snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs1051338
rs1051338
LIPA
7 0.807 0.120 10 89247603 missense variant T/G snv 0.32 0.26 0.010 1.000 1 2006 2006
dbSNP: rs1059507
rs1059507
LPL
4 1.000 0.080 8 19966452 3 prime UTR variant C/T snv 0.15 0.010 1.000 1 2017 2017
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
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 < 0.001 1 2007 2007
dbSNP: rs10824310
rs10824310
PRKG1 ; PRKG1-AS1
1 1.000 0.080 10 52268704 intron variant C/T snv 4.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs10845990
rs10845990
SLC2A14
2 0.925 0.080 12 7818125 intron variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs1117750
rs1117750
DGKB
1 1.000 0.080 7 14848793 intron variant C/T snv 0.10 0.010 1.000 1 2011 2011
dbSNP: rs11190302
rs11190302 		1 1.000 0.080 10 99873158 downstream gene variant C/T snv 0.37 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: rs11218343
rs11218343
SORL1
2 0.925 0.080 11 121564878 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1131445
rs1131445
IL16 ; STARD5
16 0.724 0.440 15 81309441 3 prime UTR variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 < 0.001 1 2010 2010
dbSNP: rs1155002
rs1155002
CYP2J2
2 1.000 0.080 1 59908103 intron variant T/C snv 0.66 0.010 1.000 1 2017 2017
dbSNP: rs11556505
rs11556505
TOMM40
3 0.925 0.080 19 44892887 synonymous variant C/T snv 0.13 0.13 0.010 1.000 1 2013 2013
dbSNP: rs115865530
rs115865530
PSEN1
2 0.925 0.080 14 73206449 missense variant A/G snv 1.4E-04 4.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs11610206
rs11610206
LOC105369746
2 0.925 0.080 12 47245743 intron variant T/C snv 9.7E-02 0.010 1.000 1 2011 2011