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: rs3132468
rs3132468
5 0.827 0.240 6 31507709 intron variant C/T snv 0.77 0.710 1.000 2 2011 2017
dbSNP: rs10104997
rs10104997
RP1
2 0.925 0.040 8 54527508 intron variant C/T snv 0.19 0.700 1.000 1 2011 2011
dbSNP: rs3765524
rs3765524
17 0.724 0.320 10 94298541 missense variant C/T snv 0.27 0.31 0.700 1.000 1 2011 2011
dbSNP: rs6500818
rs6500818
2 0.925 0.040 16 6767374 intron variant C/T snv 0.11 0.700 1.000 1 2011 2011
dbSNP: rs4804803
rs4804803
15 0.732 0.360 19 7747847 upstream gene variant A/G snv 0.26 0.040 0.750 4 2011 2019
dbSNP: rs1285933
rs1285933
2 0.925 0.040 7 141927349 intron variant G/A snv 0.54 0.020 1.000 2 2013 2017
dbSNP: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.020 0.500 2 2015 2018
dbSNP: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 < 0.001 1 2018 2018
dbSNP: rs1317403430
rs1317403430
CFH
1 1.000 0.040 1 196673869 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1447043692
rs1447043692
2 0.925 0.040 10 98641918 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2013 2013
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs1800875
rs1800875
12 0.742 0.360 14 24510132 upstream gene variant C/T snv 0.41 0.010 < 0.001 1 2015 2015
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 < 0.001 1 2018 2018
dbSNP: rs2780831
rs2780831
1 1.000 0.040 1 64880504 intron variant C/T snv 0.35 0.010 < 0.001 1 2018 2018
dbSNP: rs371057322
rs371057322
2 0.925 0.040 2 8793960 missense variant T/C snv 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs3739319
rs3739319
2 0.925 0.040 8 39927802 intron variant G/A snv 0.40 0.37 0.010 1.000 1 2019 2019
dbSNP: rs3740360
rs3740360
7 0.827 0.240 10 94265734 intron variant A/C snv 9.7E-02 8.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs3775291
rs3775291
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2015 2015
dbSNP: rs4973
rs4973
ACE
1 1.000 0.040 17 63486691 synonymous variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs5745568
rs5745568
4 0.882 0.080 6 33580617 intron variant G/T snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs750898115
rs750898115
4 0.882 0.080 4 75787191 missense variant A/G snv 1.0E-05 3.5E-05 0.010 1.000 1 2007 2007
dbSNP: rs762513613
rs762513613
11 0.752 0.280 1 161591315 missense variant A/G snv 4.2E-06 7.4E-06 0.010 1.000 1 2010 2010
dbSNP: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.010 < 0.001 1 2018 2018
dbSNP: rs8177374
rs8177374
22 0.672 0.520 11 126292948 missense variant C/T snv 0.12 0.11 0.010 1.000 1 2015 2015