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: rs1064039
rs1064039
CST3
6 0.827 0.200 20 23637790 missense variant C/G;T snv 0.20 0.010 1.000 1 2004 2004
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2009 2009
dbSNP: rs1136287
rs1136287
SERPINF1
8 0.790 0.280 17 1769982 missense variant C/T snv 0.61 0.69 0.020 1.000 2 2009 2012
dbSNP: rs2736911
rs2736911
ARMS2 ; LOC105378525
3 0.882 0.120 10 122454839 stop gained C/A;T snv 4.0E-06; 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: rs42524
rs42524
COL1A2
6 0.827 0.160 7 94413927 missense variant C/A;G;T snv 8.0E-06; 0.77; 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs641153
rs641153
CFB ; CYP21A2
7 0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06 0.700 1.000 1 2012 2012
dbSNP: rs9332739
rs9332739
C2 ; CYP21A2 ; C2-AS1
10 0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs9621532
rs9621532
SYN3
4 0.851 0.040 22 32688525 intron variant A/C snv 5.8E-02 0.010 < 0.001 1 2012 2012
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: rs2285714
rs2285714
PLA2G12A
3 0.882 0.040 4 109717654 synonymous variant C/T snv 0.37 0.31 0.020 1.000 2 2012 2014
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: rs4711751
rs4711751
LOC107986598
3 0.882 0.040 6 43860845 intergenic variant T/C snv 0.37 0.010 < 0.001 1 2014 2014
dbSNP: rs6982567
rs6982567
C8orf37-AS1
3 0.882 0.040 8 95738053 intron variant C/T snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.020 < 0.001 2 2014 2015
dbSNP: rs3793917
rs3793917
HTRA1 ; LOC105378525
3 0.882 0.040 10 122459759 non coding transcript exon variant C/G snv 0.23 0.020 1.000 2 2010 2015
dbSNP: rs10507047
rs10507047
FGD6
2 0.925 0.040 12 95210514 missense variant T/C snv 0.12 0.11 0.700 1.000 1 2015 2015
dbSNP: rs10737680
rs10737680
CFH
9 0.827 0.080 1 196710325 intron variant A/C snv 0.44 0.700 1.000 1 2015 2015
dbSNP: rs12661281
rs12661281
CYP21A2 ; SLC44A4
3 0.882 0.040 6 31874821 missense variant T/A snv 0.15 0.11 0.700 1.000 1 2015 2015
dbSNP: rs13095226
rs13095226
COL8A1
5 0.851 0.040 3 99677428 intron variant T/C snv 9.5E-02 0.010 < 0.001 1 2015 2015
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: rs2295334
rs2295334
C6orf223 ; LOC101929705
2 0.925 0.040 6 44003090 synonymous variant G/A snv 5.0E-02 3.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs2303790
rs2303790
CETP
19 0.724 0.280 16 56983380 missense variant A/G snv 2.6E-03 6.5E-04 0.700 1.000 1 2015 2015
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