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: rs28363170
rs28363170
SLC6A3
7 0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2009 2009
dbSNP: rs11568822
rs11568822
APOC1
1 1.000 0.080 19 44914381 5 prime UTR variant -/CGTT delins 0.020 1.000 2 2014 2019
dbSNP: rs1566638673
rs1566638673
PSEN1
1 1.000 0.080 14 73186881 inframe insertion -/TAT delins 0.700 0
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.030 1.000 3 2009 2016
dbSNP: rs1455460144
rs1455460144
CHAT
1 1.000 0.080 10 49625580 frameshift variant A/- del 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs63749964
rs63749964
APP
4 0.851 0.080 21 25891783 missense variant A/C snv 0.710 1.000 21 1991 2005
dbSNP: rs1081105
rs1081105
APOE
1 1.000 0.080 19 44909698 non coding transcript exon variant A/C snv 3.0E-02 0.700 1.000 2 2018 2019
dbSNP: rs2965169
rs2965169
BCL3
2 0.925 0.120 19 44747899 non coding transcript exon variant A/C snv 0.50 0.700 1.000 2 2018 2019
dbSNP: rs4663105
rs4663105
LOC105373605
1 1.000 0.080 2 127133851 intergenic variant A/C snv 0.47 0.700 1.000 2 2016 2019
dbSNP: rs4844610
rs4844610
CR1
1 1.000 0.080 1 207629207 intron variant A/C snv 0.87 0.710 1.000 2 2011 2012
dbSNP: rs714948
rs714948
PVR ; CEACAM19 ; LOC107985305
1 1.000 0.080 19 44662645 3 prime UTR variant A/C snv 0.92 0.700 1.000 2 2011 2014
dbSNP: rs10109834
rs10109834
PTK2B
1 1.000 0.080 8 27354759 intron variant A/C snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs1033301
rs1033301
VSNL1
1 1.000 0.080 2 17592731 intron variant A/C snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs1036819
rs1036819
ZFAT ; ZFAT-AS1
2 0.925 0.120 8 134599702 non coding transcript exon variant A/C snv 0.11 0.010 1.000 1 2018 2018
dbSNP: rs10455152
rs10455152 		1 1.000 0.080 6 85308630 intergenic variant A/C snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs10997691
rs10997691
CTNNA3
1 1.000 0.080 10 67521827 intron variant A/C snv 0.16 0.13 0.010 < 0.001 1 2016 2016
dbSNP: rs1133763
rs1133763
CCL8
4 0.882 0.200 17 34320812 missense variant A/C snv 0.21 0.15 0.010 1.000 1 2009 2009
dbSNP: rs11603136
rs11603136 		1 1.000 0.080 11 86163280 regulatory region variant A/C snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs1167428194
rs1167428194
APOE
1 1.000 0.080 19 44908634 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs11773349
rs11773349
LOC105375328
1 1.000 0.080 7 64946786 upstream gene variant A/C snv 0.12 0.700 1.000 1 2016 2016
dbSNP: rs117983694
rs117983694
CCDC89
1 1.000 0.080 11 85685837 missense variant A/C snv 5.4E-03 6.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs1200601649
rs1200601649
APP
2 0.925 0.080 21 26022022 missense variant A/C snv 0.010 1.000 1 2019 2019
dbSNP: rs121908402
rs121908402
TREM2 ; LOC105375056
3 0.882 0.280 6 41161277 missense variant A/C snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs1362575880
rs1362575880
PSEN1
4 0.851 0.120 14 73192840 missense variant A/C snv 4.0E-06 0.010 1.000 1 2019 2019