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: rs5082
rs5082
APOA2
8 0.807 0.160 1 161223893 upstream gene variant G/A snv 0.68 0.010 1.000 1 2008 2008
dbSNP: rs662799
rs662799
APOA5
33 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 0.030 1.000 3 2010 2016
dbSNP: rs3135506
rs3135506
APOA5
26 0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02 0.020 1.000 2 2007 2009
dbSNP: rs4420638
rs4420638
APOC1
43 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.020 1.000 2 2009 2015
dbSNP: rs138326449
rs138326449
APOC3
5 0.851 0.080 11 116830638 splice donor variant G/A snv 1.4E-03 1.5E-03 0.010 1.000 1 2016 2016
dbSNP: rs11542041
rs11542041
APOE
23 0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05 0.010 1.000 1 2005 2005
dbSNP: rs267606661
rs267606661
APOE
10 0.763 0.120 19 44909101 missense variant C/G;T snv 3.9E-04; 1.0E-05 0.010 1.000 1 1997 1997
dbSNP: rs764929617
rs764929617
APOE
8 0.776 0.200 19 44907799 missense variant C/T snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs189037
rs189037
ATM ; NPAT
22 0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs653178
rs653178
ATXN2
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.010 1.000 1 2013 2013
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2018 2018
dbSNP: rs805296
rs805296
BAG6 ; APOM
4 0.851 0.120 6 31655116 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs17757541
rs17757541
BCL2
7 0.827 0.240 18 63212453 intron variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs11646692
rs11646692
BCO1
1 1.000 0.040 16 81238301 upstream gene variant C/G snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs12934922
rs12934922
BCO1
4 0.851 0.120 16 81268089 missense variant A/G;T snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs12050217
rs12050217
BDKRB1
6 0.827 0.160 14 96262416 intron variant A/G snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs10767664
rs10767664
BDNF
16 0.752 0.400 11 27704439 intron variant T/A snv 0.83 0.010 1.000 1 2014 2014
dbSNP: rs13306221
rs13306221
BDNF
4 0.851 0.120 11 27701142 intron variant C/T snv 5.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs749710704
rs749710704
BHMT ; DMGDH
7 0.790 0.160 5 79119289 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs11066001
rs11066001
BRAP
15 0.763 0.360 12 111681367 intron variant T/C snv 5.8E-03 0.020 0.500 2 2011 2011
dbSNP: rs9534275
rs9534275
BRCA2
7 0.851 0.080 13 32366208 intron variant C/A snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs8259
rs8259
BSG
9 0.776 0.200 19 582927 3 prime UTR variant T/A snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs1310478538
rs1310478538
C3
4 0.851 0.080 19 6713295 missense variant C/G snv 1.4E-05 0.020 1.000 2 2002 2010
dbSNP: rs11014166
rs11014166
CACNB2
10 0.882 0.040 10 18419869 intron variant A/T snv 0.27 0.010 1.000 1 2010 2010