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: rs7803454
rs7803454
PILRA
4 0.851 0.040 7 100393925 intron variant C/T snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs67538026
rs67538026
CNN2
4 0.851 0.040 19 1031439 intron variant C/T snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs2740488
rs2740488
ABCA1
9 0.827 0.120 9 104899461 intron variant A/C snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs28368872
rs28368872 		3 0.882 0.040 16 10491493 upstream gene variant G/A snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs1142
rs1142
SRPK2
6 0.851 0.040 7 105115879 intron variant C/T snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs10033900
rs10033900
CFI
7 0.807 0.040 4 109737911 intron variant T/C snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs141853578
rs141853578
CFI
6 0.807 0.040 4 109764664 missense variant C/T snv 4.2E-04 3.9E-04 0.700 1.000 1 2016 2016
dbSNP: rs61941274
rs61941274
ACAD10
5 0.827 0.160 12 111694806 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs151207349
rs151207349
PRKCSH
2 0.925 0.040 19 11441343 missense variant C/T snv 7.0E-04 5.7E-04 0.010 1.000 1 2009 2009
dbSNP: rs1460548929
rs1460548929
PRKCSH
2 0.925 0.040 19 11442432 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs10490924
rs10490924
ARMS2 ; LOC105378525
16 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.800 1.000 14 2008 2016
dbSNP: rs3750846
rs3750846
ARMS2 ; LOC105378525
4 0.851 0.040 10 122456049 intron variant T/C snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs11200638
rs11200638
HTRA1 ; LOC105378525
14 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.040 1.000 4 2007 2012
dbSNP: rs1253615192
rs1253615192
HTRA1 ; LOC105378525
2 0.925 0.040 10 122461959 missense variant C/G snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs2842992
rs2842992 		2 0.925 0.040 6 159650127 intron variant G/A snv 0.73 0.710 1.000 2 2012 2014
dbSNP: rs1130864
rs1130864
CRP
27 0.672 0.520 1 159713301 3 prime UTR variant G/A snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs58978565
rs58978565
TNR
3 0.882 0.040 1 175376466 intron variant -/AGAGT ins 0.37 0.010 1.000 1 2018 2018
dbSNP: rs3775291
rs3775291
TLR3
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.030 1.000 3 2008 2016
dbSNP: rs187328863
rs187328863
KCNT2
4 0.851 0.040 1 196411028 intron variant C/T snv 1.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs148553336
rs148553336 		4 0.851 0.040 1 196644043 intergenic variant T/C snv 7.7E-03 0.700 1.000 1 2016 2016
dbSNP: rs800292
rs800292
CFH
33 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2016 2016
dbSNP: rs570618
rs570618
CFH
6 0.827 0.040 1 196687934 intron variant T/G snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.760 1.000 7 2006 2018
dbSNP: rs10737680
rs10737680
CFH
9 0.827 0.080 1 196710325 intron variant A/C snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs10922109
rs10922109
CFH
6 0.827 0.080 1 196735502 intron variant C/A snv 0.46 0.700 1.000 1 2016 2016