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: rs11603020
rs11603020
SERPING1
2 0.925 0.120 11 57606859 intron variant T/C snv 0.21 0.010 < 0.001 1 2010 2010
dbSNP: rs11755724
rs11755724
RREB1
7 0.807 0.320 6 7118757 intron variant A/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs12900948
rs12900948
RORA
1 1.000 0.040 15 61148472 intron variant C/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs149396611
rs149396611
FBLN5
4 0.851 0.120 14 91883017 missense variant C/T snv 2.6E-04 2.5E-04 0.010 1.000 1 2010 2010
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2010 2010
dbSNP: rs1971579
rs1971579
CFHR4 ; LOC105371675
1 1.000 0.040 1 196918051 intron variant T/G snv 0.40 0.700 1.000 1 2010 2010
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2010 2010
dbSNP: rs28939072
rs28939072
FBLN5
2 0.925 0.040 14 91891334 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs28939370
rs28939370
FBLN5
3 0.882 0.120 14 91887253 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs3025033
rs3025033
VEGFA
6 0.807 0.360 6 43783338 non coding transcript exon variant A/G snv 0.18 0.010 1.000 1 2010 2010
dbSNP: rs730754
rs730754
RORA
1 1.000 0.040 15 61159137 intron variant C/T snv 0.58 0.010 1.000 1 2010 2010
dbSNP: rs7535263
rs7535263
CFH
3 0.925 0.080 1 196713216 intron variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs771025483
rs771025483
PON1
1 1.000 0.040 7 95306310 missense variant G/C snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs781071878
rs781071878
PON1
1 1.000 0.040 7 95311484 missense variant T/C snv 4.2E-04 1.0E-04 0.010 1.000 1 2010 2010
dbSNP: rs8072199
rs8072199
NOS2
1 1.000 0.040 17 27789822 intron variant C/T snv 0.35 0.010 1.000 1 2010 2010
dbSNP: rs9380272
rs9380272
C2 ; CYP21A2 ; C2-AS1
1 1.000 0.040 6 31938233 intron variant G/A snv 0.800 1.000 1 2010 2010
dbSNP: rs953038635
rs953038635
SOD2
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs200483076
rs200483076
SYN3
1 1.000 0.040 22 32688525 intron variant A/C snv 0.700 1.000 3 2010 2011
dbSNP: rs2301995
rs2301995
ELN
3 0.882 0.160 7 74037810 non coding transcript exon variant G/A snv 0.11 0.030 1.000 3 2011 2011
dbSNP: rs1253615192
rs1253615192
HTRA1 ; LOC105378525
2 0.925 0.040 10 122461959 missense variant C/G snv 7.0E-06 0.020 1.000 2 2008 2011
dbSNP: rs1048661
rs1048661
LOXL1 ; LOXL1-AS1
14 0.732 0.320 15 73927205 missense variant G/T snv 0.33 0.28 0.010 1.000 1 2011 2011
dbSNP: rs1051308
rs1051308
HMOX2 ; CDIP1
3 0.882 0.080 16 4510300 3 prime UTR variant G/A snv 0.54 0.010 1.000 1 2011 2011
dbSNP: rs10754199
rs10754199
CFH
2 1.000 0.040 1 196701709 intron variant A/G snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs1387665
rs1387665
ROBO1
1 1.000 0.040 3 79380661 intron variant G/A;T snv 0.010 1.000 1 2011 2011