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: rs200538373
rs200538373
ABCA7
2 0.925 0.120 19 1061893 splice region variant G/A;C snv 2.5E-03 0.010 1.000 1 2017 2017
dbSNP: rs1217777010
rs1217777010
APOA1 ; APOA1-AS
1 1.000 0.040 11 116836182 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1473654052
rs1473654052
DOCK11
2 0.925 0.080 X 118542729 missense variant A/C snv 9.5E-06 0.010 1.000 1 2012 2012
dbSNP: rs376961112
rs376961112
GSN
4 0.851 0.240 9 121302059 missense variant G/A snv 4.0E-06 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs121909715
rs121909715
GSN
8 0.790 0.160 9 121310819 missense variant G/A;T snv 4.0E-06 0.060 1.000 6 1991 2018
dbSNP: rs1309900188
rs1309900188
GSN
1 1.000 0.040 9 121312342 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs759304648
rs759304648
GSN
9 0.790 0.240 9 121312479 synonymous variant G/A snv 8.0E-05 3.5E-05 0.030 1.000 3 2002 2007
dbSNP: rs920832709
rs920832709
GSN
4 0.851 0.200 9 121321384 synonymous variant G/T snv 0.030 1.000 3 2002 2007
dbSNP: rs535229743
rs535229743
GSN
1 1.000 0.040 9 121327419 missense variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs13031703
rs13031703
LOC105373605
2 0.925 0.120 2 127129099 intergenic variant C/T snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs744373
rs744373 		8 0.851 0.160 2 127137039 downstream gene variant A/G snv 0.35 0.010 1.000 1 2016 2016
dbSNP: rs121909211
rs121909211
TGFBI
15 0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2000 2000
dbSNP: rs10097505
rs10097505
ARC
2 0.925 0.120 8 142612823 3 prime UTR variant G/A snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs237025
rs237025
TAB2 ; SUMO4
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.010 1.000 1 2006 2006
dbSNP: rs371557337
rs371557337
DCTN4
2 1.000 0.040 5 150733475 start lost T/C;G snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121909612
rs121909612
FGA
6 0.807 0.160 4 154585795 missense variant T/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs201564694
rs201564694
APCS
3 0.882 0.120 1 159588626 missense variant T/C snv 0.010 1.000 1 2009 2009
dbSNP: rs1335856860
rs1335856860
FAP
2 0.925 0.120 2 162183437 missense variant T/C snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs946880677
rs946880677
FAP
4 0.882 0.080 2 162224488 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs17070145
rs17070145
WWC1
10 0.790 0.120 5 168418786 intron variant C/T snv 0.43 0.010 1.000 1 2018 2018
dbSNP: rs745826707
rs745826707
RBM45
5 0.851 0.200 2 178112712 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1475170339
rs1475170339
IGFALS ; SPSB3
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs12218
rs12218
SAA1
11 0.763 0.280 11 18269774 synonymous variant T/C snv 0.42 0.36 0.010 1.000 1 2015 2015
dbSNP: rs6656401
rs6656401
CR1
8 0.776 0.200 1 207518704 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs73069071
rs73069071
IAPP ; SLCO1A2
6 0.807 0.240 12 21357370 intron variant T/C snv 0.14 0.010 1.000 1 2017 2017