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: rs6859
rs6859
NECTIN2
10 0.827 0.120 19 44878777 3 prime UTR variant A/G snv 0.58 0.020 1.000 2 2011 2017
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: 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: 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: 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: 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: 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: 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
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: rs11711889
rs11711889
LINC02006
1 1.000 0.080 3 153652877 intron variant G/A snv 0.12 0.010 1.000 1 2011 2011
dbSNP: rs11767557
rs11767557
EPHA1-AS1
4 0.882 0.080 7 143412046 intron variant T/C snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs11771145
rs11771145
EPHA1-AS1
2 0.925 0.080 7 143413669 intron variant G/A snv 0.42 0.010 1.000 1 2020 2020
dbSNP: rs11792633
rs11792633
IL33 ; LOC107987046
5 0.882 0.280 9 6248035 intron variant C/T snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs12249854
rs12249854
HECTD2 ; HECTD2-AS1
3 0.882 0.160 10 91426505 intron variant T/A snv 0.21 0.010 < 0.001 1 2009 2009
dbSNP: rs12344615
rs12344615
UBQLN1
4 0.851 0.080 9 83666280 intron variant A/C;G snv 0.010 1.000 1 2010 2010