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: rs61755792
rs61755792
PRPH2
10 0.763 0.160 6 42721821 missense variant G/A;C snv 0.040 1.000 4 1995 2014
dbSNP: rs1800553
rs1800553
ABCA4
17 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.060 0.833 6 1999 2019
dbSNP: rs1800549
rs1800549
ABCA4
2 0.925 0.040 1 94030497 missense variant G/A snv 4.6E-03 1.6E-03 0.010 1.000 1 1999 1999
dbSNP: rs61750120
rs61750120
ABCA4
4 0.882 0.160 1 94042767 missense variant G/A snv 1.2E-04 1.8E-04 0.010 1.000 1 1999 1999
dbSNP: rs61750200
rs61750200
ABCA4
8 0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1800555
rs1800555
ABCA4
1 1.000 0.040 1 93998061 missense variant C/T snv 1.1E-02 1.0E-02 0.030 0.667 3 2000 2015
dbSNP: rs121434491
rs121434491
EFEMP1 ; LOC112268416
15 0.752 0.200 2 55871091 missense variant G/A snv 0.090 0.889 9 2002 2019
dbSNP: rs150633473
rs150633473
OPTC
1 1.000 0.040 1 203499804 missense variant C/T snv 6.0E-05 7.7E-05 0.010 1.000 1 2002 2002
dbSNP: rs3732378
rs3732378
CX3CR1
48 0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12 0.090 0.778 9 2004 2018
dbSNP: rs3732379
rs3732379
CX3CR1
38 0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22 0.080 0.875 8 2004 2018
dbSNP: rs121434382
rs121434382
HMCN1
3 0.925 0.040 1 186178506 missense variant A/G snv 7.3E-04 6.8E-04 0.050 1.000 5 2004 2007
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.030 0.667 3 2004 2013
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.030 0.667 3 2004 2013
dbSNP: rs767830104
rs767830104
CXCR4
13 0.752 0.280 2 136115399 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.900 0.936 218 2005 2019
dbSNP: rs800292
rs800292
CFH
33 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.900 0.980 51 2005 2019
dbSNP: rs1136287
rs1136287
SERPINF1
8 0.790 0.280 17 1769982 missense variant C/T snv 0.61 0.69 0.060 1.000 6 2005 2018
dbSNP: rs380390
rs380390
CFH
2 0.925 0.160 1 196731921 intron variant G/A;C;T snv 0.810 1.000 4 2005 2013
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.040 0.250 4 2005 2009
dbSNP: rs111033578
rs111033578
MFRP ; C1QTNF5
5 0.827 0.200 11 119339574 missense variant G/C snv 0.030 1.000 3 2005 2018
dbSNP: rs3812153
rs3812153
ELOVL4
2 0.925 0.040 6 79916658 missense variant T/C snv 0.17 0.16 0.020 1.000 2 2005 2006
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 0.500 2 2005 2008
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2005 2005
dbSNP: rs1176281575
rs1176281575
SOD2
1 1.000 0.040 6 159684905 missense variant G/A snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs768231616
rs768231616
CYP1A2
3 0.882 0.120 15 74750069 frameshift variant CT/- delins 4.0E-06 0.010 1.000 1 2005 2005