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: 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: 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: 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: 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
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: rs11542041
rs11542041
APOE
23 0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05 0.010 1.000 1 2006 2006
dbSNP: rs121434303
rs121434303
FBLN5
3 0.882 0.120 14 91870336 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs141138308
rs141138308
VEGFA
1 1.000 0.040 6 43780784 missense variant C/A;T snv 4.0E-06; 2.8E-05 0.010 1.000 1 2006 2006
dbSNP: rs148957473
rs148957473
VSX1
5 0.827 0.160 20 25077762 missense variant T/C;G snv 2.7E-03 0.010 1.000 1 2006 2006
dbSNP: rs752907384
rs752907384
VEGFA
6 0.827 0.200 6 43782077 missense variant C/G;T snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs80338766
rs80338766
FBLN5
3 0.882 0.120 14 91887283 missense variant A/G snv 0.010 1.000 1 2006 2006
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: rs10272438
rs10272438
BBS9
1 1.000 0.040 7 33199222 intron variant A/G snv 0.19 0.010 < 0.001 1 2007 2007
dbSNP: rs10521496
rs10521496
DIAPH2
3 0.882 0.120 X 97043550 intron variant G/A snv 0.41 0.010 1.000 1 2007 2007
dbSNP: rs3024997
rs3024997
VEGFA
3 0.882 0.120 6 43777370 non coding transcript exon variant G/A snv 0.31 0.010 1.000 1 2007 2007
dbSNP: rs2293870
rs2293870
HTRA1 ; LOC105378525
4 0.851 0.160 10 122461760 synonymous variant G/C;T snv 5.9E-02; 0.32 0.020 1.000 2 2008 2008
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: rs179008
rs179008
TLR7
14 0.763 0.360 X 12885540 missense variant A/C;T snv 0.18 0.18 0.010 1.000 1 2008 2008
dbSNP: rs2287074
rs2287074
MMP2
4 0.851 0.120 16 55493201 synonymous variant G/A;C snv 0.39; 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs376409934
rs376409934
JTB ; CREB3L4
1 1.000 0.040 1 153974702 missense variant G/A;C snv 4.4E-05; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs9288410
rs9288410
MAP2
2 0.925 0.160 2 209633537 intron variant G/A snv 0.30 0.010 1.000 1 2008 2008