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: rs17746510
rs17746510
RAPGEF4
5 0.882 0.080 2 173019562 intron variant T/C;G snv 0.010 < 0.001 1 2016 2016
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2011 2011
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2007 2007
dbSNP: rs193922916
rs193922916
APP
6 0.827 0.080 21 25897619 missense variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs2071430
rs2071430
MX1
7 0.807 0.320 21 41426138 5 prime UTR variant G/T snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs2072446
rs2072446
NGFR ; LOC100288866 ; MIR6165
11 0.776 0.160 17 49510457 missense variant C/T snv 5.2E-02 4.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs2075650
rs2075650
TOMM40
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.800 1.000 1 2014 2014
dbSNP: rs2162560
rs2162560
DNMT1
2 1.000 0.040 19 10168778 intron variant G/A snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs2230288
rs2230288
GBA
18 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs2283368
rs2283368
KL
2 1.000 0.040 13 33019132 intron variant T/C snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs267606663
rs267606663
APOE
3 0.925 0.080 19 44909021 missense variant G/A;C snv 7.3E-06 0.010 1.000 1 2011 2011
dbSNP: rs2973488
rs2973488
CTNND2
1 5 11043805 intron variant A/T snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs3219484
rs3219484
MUTYH
7 0.807 0.160 1 45334484 missense variant C/A;T snv 4.8E-02 4.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs3219489
rs3219489
MUTYH
24 0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 0.010 1.000 1 2011 2011
dbSNP: rs363050
rs363050
SNAP25 ; SNAP25-AS1
8 0.790 0.240 20 10253609 intron variant G/A snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs375752214
rs375752214
NOS3
22 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs3763040
rs3763040
AQP4 ; AQP4-AS1
3 0.925 0.080 18 26864410 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs3763043
rs3763043
AQP4 ; AQP4-AS1
3 0.925 0.080 18 26855854 3 prime UTR variant C/T snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs3764650
rs3764650
ABCA7
9 0.790 0.200 19 1046521 intron variant T/G snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs386833981
rs386833981
CLN5 ; FBXL3
3 0.925 0.120 13 77000517 missense variant T/G snv 0.010 1.000 1 2007 2007
dbSNP: rs3875089
rs3875089
AQP4 ; AQP4-AS1
3 0.925 0.080 18 26865469 intron variant T/C snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs398122403
rs398122403
SYNJ1
11 0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs4291
rs4291
ACE
20 0.724 0.400 17 63476833 upstream gene variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs457274
rs457274
MX1
2 1.000 0.040 21 41420558 5 prime UTR variant C/G snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs4646
rs4646
CYP19A1 ; MIR4713HG
16 0.716 0.360 15 51210647 3 prime UTR variant A/C snv 0.67 0.70 0.010 1.000 1 2009 2009