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: rs1057518955
rs1057518955
ABCA4
2 1.000 0.120 1 94019602 frameshift variant -/C delins 4.1E-06 0.700 0
dbSNP: rs14259
rs14259
PSMD9
19 0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 0.010 1.000 1 2011 2011
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 < 0.001 1 2002 2002
dbSNP: rs2853502
rs2853502
CYTB ; ND5
2 1.000 0.200 MT 13276 missense variant A/C;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.020 1.000 2 2007 2010
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2005 2013
dbSNP: rs12155400
rs12155400
HDAC9
2 7 18389298 intron variant A/G snv 2.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2008 2008
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 1995 1995
dbSNP: rs768435443
rs768435443
ABCA4
8 0.807 0.080 1 94055128 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs137853298
rs137853298
TIMP3 ; SYN3
3 0.925 0.080 22 32859351 missense variant A/T snv 0.010 1.000 1 2008 2008
dbSNP: rs104893768
rs104893768
RHO
11 0.807 0.080 3 129528801 missense variant C/A snv 0.020 1.000 2 2012 2017
dbSNP: rs2146323
rs2146323
VEGFA
13 0.752 0.480 6 43777358 non coding transcript exon variant C/A snv 0.31 0.010 1.000 1 2008 2008
dbSNP: rs62638634
rs62638634
RPGR
4 0.925 0.080 X 38322921 missense variant C/A snv 0.010 1.000 1 1998 1998
dbSNP: rs80338902
rs80338902
USH2A
10 0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 0.010 1.000 1 2004 2004
dbSNP: rs375090109
rs375090109
PRPH2
1 6 42722120 missense variant C/A;G snv 4.0E-06; 2.4E-05 0.010 1.000 1 1997 1997
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2009 2009
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 < 0.001 1 2017 2017
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2015 2015
dbSNP: rs1557024919
rs1557024919
HUWE1
7 0.925 0.240 X 53634235 splice donor variant C/G snv 0.700 0
dbSNP: rs3825172
rs3825172
PSMD9
14 0.776 0.360 12 121902569 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.030 0.333 3 2012 2013
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.020 0.500 2 2005 2019