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: rs138195505
rs138195505
C2 ; CYP21A2
2 0.925 0.040 6 31933645 missense variant G/A;T snv 2.0E-05; 1.6E-05 0.010 1.000 1 2012 2012
dbSNP: rs1410996
rs1410996
CFH
11 0.807 0.240 1 196727803 intron variant G/A snv 0.46 0.010 1.000 1 2010 2010
dbSNP: rs1532085
rs1532085
ALDH1A2
13 0.882 0.080 15 58391167 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs17030
rs17030
C3
2 0.925 0.080 19 6677978 synonymous variant G/A;C snv 0.52; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1713985
rs1713985
REST
4 0.882 0.040 4 56920284 intron variant G/T snv 0.92 0.010 < 0.001 1 2012 2012
dbSNP: rs1883025
rs1883025
ABCA1
13 0.807 0.120 9 104902020 intron variant C/T snv 0.28 0.010 < 0.001 1 2014 2014
dbSNP: rs1999930
rs1999930
FRK
3 0.882 0.040 6 116065971 intergenic variant C/A;G;T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs2070746
rs2070746
FPR1
3 0.882 0.040 19 51746449 synonymous variant G/T snv 0.34 0.30 0.010 1.000 1 2014 2014
dbSNP: rs2072633
rs2072633
CFB ; CYP21A2 ; NELFE
6 0.807 0.320 6 31951801 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2014 2014
dbSNP: rs2075650
rs2075650
TOMM40
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.010 < 0.001 1 2013 2013
dbSNP: rs2217332
rs2217332
HERPUD1
4 0.882 0.160 16 56935236 missense variant G/A snv 0.15 0.14 0.010 1.000 1 2015 2015
dbSNP: rs225396
rs225396
ABCG1
2 0.925 0.040 21 42267244 intron variant C/T snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs2274700
rs2274700
CFH
11 0.776 0.240 1 196713817 synonymous variant G/A;C;T snv 0.44 0.010 1.000 1 2015 2015
dbSNP: rs2274755
rs2274755
MMP9
5 0.882 0.040 20 46011053 splice region variant G/T snv 0.15 0.15 0.010 1.000 1 2014 2014
dbSNP: rs2285714
rs2285714
PLA2G12A
3 0.882 0.040 4 109717654 synonymous variant C/T snv 0.37 0.31 0.010 1.000 1 2014 2014
dbSNP: rs2293870
rs2293870
HTRA1 ; LOC105378525
4 0.851 0.160 10 122461760 synonymous variant G/C;T snv 5.9E-02; 0.32 0.010 1.000 1 2016 2016
dbSNP: rs2303790
rs2303790
CETP
19 0.724 0.280 16 56983380 missense variant A/G snv 2.6E-03 6.5E-04 0.010 1.000 1 2018 2018
dbSNP: rs2672598
rs2672598
HTRA1 ; LOC105378525
4 0.851 0.160 10 122461166 non coding transcript exon variant T/C snv 0.49 0.010 1.000 1 2016 2016
dbSNP: rs3173798
rs3173798
CD36
2 0.925 0.040 7 80656534 splice region variant T/C snv 0.14 0.13 0.010 1.000 1 2012 2012
dbSNP: rs3173800
rs3173800
CD36
2 0.925 0.040 7 80660605 intron variant A/T snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs344555
rs344555
C3
2 0.925 0.040 19 6679349 intron variant T/C snv 0.80 0.010 1.000 1 2014 2014
dbSNP: rs369149111
rs369149111
HTRA1 ; LOC105378525
1 1.000 10 122461711 missense variant C/T snv 2.1E-02 9.0E-03 0.010 1.000 1 2016 2016
dbSNP: rs3750847
rs3750847
ARMS2 ; LOC105378525
4 0.882 0.040 10 122455905 intron variant C/T snv 0.23 0.010 1.000 1 2015 2015
dbSNP: rs3775291
rs3775291
TLR3
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 < 0.001 1 2011 2011
dbSNP: rs3793917
rs3793917
HTRA1 ; LOC105378525
3 0.882 0.040 10 122459759 non coding transcript exon variant C/G snv 0.23 0.010 1.000 1 2010 2010