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: rs1800592
rs1800592 		8 0.807 0.200 4 140572807 upstream gene variant T/C snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs1800553
rs1800553
ABCA4
17 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.010 1.000 1 2019 2019
dbSNP: rs201471607
rs201471607
ABCA4
7 0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05 0.010 1.000 1 2007 2007
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: rs1057518955
rs1057518955
ABCA4
2 1.000 0.120 1 94019602 frameshift variant -/C delins 4.1E-06 0.700 0
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 1995 1995
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: 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: rs113624356
rs113624356
BBS1 ; ZDHHC24
22 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.010 1.000 1 2012 2012
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
5 0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04 0.010 1.000 1 2011 2011
dbSNP: rs771676129
rs771676129
CD36
7 0.827 0.080 7 80671082 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs999947969
rs999947969
CD36
7 0.827 0.080 7 80671145 synonymous variant C/T snv 0.010 1.000 1 2003 2003
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2009 2009
dbSNP: rs1249719
rs1249719
COL27A1
2 1.000 0.120 9 114235944 intron variant G/A snv 6.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs281874657
rs281874657
COL4A5
3 0.925 0.160 X 108586717 stop gained C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs281874727
rs281874727
COL4A5
2 1.000 0.160 X 108681837 stop gained C/T snv 0.010 1.000 1 2008 2008
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: rs1282382243
rs1282382243
DLEU1 ; DLEU7 ; DLEU7-AS1
8 0.807 0.120 13 50843630 missense variant G/A snv 0.010 1.000 1 2000 2000
dbSNP: rs121434491
rs121434491
EFEMP1 ; LOC112268416
15 0.752 0.200 2 55871091 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs763544450
rs763544450
ERG
4 1.000 0.080 21 38445560 missense variant T/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs774038422
rs774038422
ERG
2 1.000 0.080 21 38391009 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs12155400
rs12155400
HDAC9
2 7 18389298 intron variant A/G snv 2.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 < 0.001 1 2004 2004
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
dbSNP: rs1557024919
rs1557024919
HUWE1
7 0.925 0.240 X 53634235 splice donor variant C/G snv 0.700 0