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
2 1.000 0.120 1 94019602 frameshift variant -/C delins 4.1E-06 0.700 0
dbSNP: rs1557024919
rs1557024919
7 0.925 0.240 X 53634235 splice donor variant C/G snv 0.700 0
dbSNP: rs1217691063
rs1217691063
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: rs2070600
rs2070600
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: rs104893768
rs104893768
RHO
11 0.807 0.080 3 129528801 missense variant C/A snv 0.020 1.000 2 2012 2017
dbSNP: rs11549465
rs11549465
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: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.020 0.500 2 2012 2013
dbSNP: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.020 1.000 2 2000 2006
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.020 1.000 2 2007 2010
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: rs11196205
rs11196205
7 0.827 0.200 10 113047288 intron variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs113624356
rs113624356
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: rs1160535157
rs1160535157
1 X 120449056 stop gained G/C snv 0.010 1.000 1 2007 2007
dbSNP: rs121434491
rs121434491
15 0.752 0.200 2 55871091 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs12155400
rs12155400
2 7 18389298 intron variant A/G snv 2.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs121918284
rs121918284
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: rs1249719
rs1249719
2 1.000 0.120 9 114235944 intron variant G/A snv 6.8E-02 0.010 1.000 1 2015 2015
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: rs1282382243
rs1282382243
8 0.807 0.120 13 50843630 missense variant G/A snv 0.010 1.000 1 2000 2000
dbSNP: rs137853006
rs137853006
11 0.776 0.080 4 16013299 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs137853298
rs137853298
3 0.925 0.080 22 32859351 missense variant A/T snv 0.010 1.000 1 2008 2008
dbSNP: rs14259
rs14259
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: rs1800553
rs1800553
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: rs1800562
rs1800562
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: rs1800592
rs1800592
8 0.807 0.200 4 140572807 upstream gene variant T/C snv 0.40 0.010 1.000 1 2015 2015