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: rs11190305
rs11190305
DNMBP
1 1.000 0.080 10 99880120 missense variant A/C;G snv 0.34; 8.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs111943087
rs111943087
CSF1R
2 0.925 0.080 5 150059725 missense variant G/A snv 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs11234495
rs11234495
PICALM
1 1.000 0.080 11 85964391 intron variant C/T snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs11244787
rs11244787
ADAM12
2 1.000 0.080 10 126046147 intron variant A/G snv 0.13 0.13 0.010 1.000 1 2010 2010
dbSNP: rs1126680
rs1126680
BCHE
5 0.851 0.160 3 165837337 synonymous variant C/T snv 5.6E-02 5.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs113145702
rs113145702
APP
1 1.000 0.080 21 25955632 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2009 2009
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: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2015 2015
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2010 2010
dbSNP: rs1138272
rs1138272
GSTP1
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 < 0.001 1 2004 2004
dbSNP: rs113962169
rs113962169
HPS1
1 1.000 0.080 10 98425662 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs1143704
rs1143704
CYP19A1 ; MIR4713HG
1 1.000 0.080 15 51218505 missense variant T/A snv 0.45 0.42 0.010 < 0.001 1 2019 2019
dbSNP: rs1151999
rs1151999
PPARG
1 1.000 0.080 3 12405654 intron variant G/T snv 0.61 0.010 1.000 1 2011 2011
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs11542041
rs11542041
APOE
23 0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05 0.010 < 0.001 1 2009 2009
dbSNP: rs11558538
rs11558538
HNMT ; LOC107985948
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.010 1.000 1 2011 2011
dbSNP: rs11568820
rs11568820
VDR
27 0.672 0.480 12 47908762 intron variant C/T snv 0.38 0.010 1.000 1 2014 2014
dbSNP: rs1158536632
rs1158536632
DIO2 ; DIO2-AS1
2 0.925 0.080 14 80211468 missense variant C/T snv 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs11637611
rs11637611
PARP6
4 0.851 0.160 15 72259371 intron variant C/T snv 0.63 0.010 1.000 1 2011 2011
dbSNP: rs1163763
rs1163763 		2 0.925 0.120 12 17567834 intron variant G/T snv 0.24 0.010 1.000 1 2009 2009
dbSNP: rs11649476
rs11649476
VAC14
2 0.925 0.080 16 70702849 intron variant C/T snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs11651595
rs11651595
NLRP1
1 1.000 0.080 17 5559959 missense variant G/C snv 4.2E-02 4.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs11657747
rs11657747
NLRP1 ; LOC105371507
1 1.000 0.080 17 5541923 missense variant G/A snv 4.2E-02 4.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs1167428194
rs1167428194
APOE
1 1.000 0.080 19 44908634 missense variant A/C snv 0.010 1.000 1 2012 2012