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: rs6478109
rs6478109
12 0.752 0.320 9 114806486 upstream gene variant A/G snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs7848647
rs7848647
13 0.732 0.320 9 114806766 upstream gene variant T/C snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs274068
rs274068
2 0.925 0.160 16 24887651 intron variant C/A snv 0.74 0.700 1.000 1 2014 2014
dbSNP: rs1364989
rs1364989
2 0.925 0.160 4 54145602 intron variant T/C snv 0.73 0.700 1.000 1 2014 2014
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.020 1.000 2 2017 2017
dbSNP: rs1391441
rs1391441
11 0.763 0.240 4 105207603 intron variant G/A snv 0.70 0.010 1.000 1 2015 2015
dbSNP: rs1456896
rs1456896
5 0.882 0.200 7 50264865 upstream gene variant C/T snv 0.67 0.010 1.000 1 2017 2017
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 2017 2017
dbSNP: rs2647012
rs2647012
7 0.790 0.320 6 32696681 intergenic variant T/C snv 0.64 0.700 1.000 1 2014 2014
dbSNP: rs2246614
rs2246614
3 0.882 0.160 11 619789 missense variant T/G snv 0.63 0.59 0.010 1.000 1 2011 2011
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 < 0.001 1 2005 2005
dbSNP: rs11203368
rs11203368
3 0.925 0.200 1 17340013 intron variant C/T snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs352139
rs352139
18 0.732 0.320 3 52224356 intron variant T/C snv 0.51 0.54 0.010 1.000 1 2010 2010
dbSNP: rs292001
rs292001
6 0.807 0.320 1 22638465 intron variant G/A snv 0.54 0.010 1.000 1 2015 2015
dbSNP: rs2004640
rs2004640
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 < 0.001 1 2010 2010
dbSNP: rs2157257
rs2157257
1 1.000 0.160 22 36312293 intron variant A/G snv 0.52 0.010 1.000 1 2012 2012
dbSNP: rs172378
rs172378
11 0.790 0.240 1 22638945 synonymous variant A/G snv 0.49 0.51 0.010 1.000 1 2015 2015
dbSNP: rs8091180
rs8091180
3 1.000 0.160 18 79404243 intron variant G/A snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs7708392
rs7708392
13 0.732 0.400 5 151077924 intron variant G/C snv 0.44 0.020 1.000 2 2013 2018
dbSNP: rs800292
rs800292
CFH
33 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2017 2017
dbSNP: rs3792192
rs3792192
2 0.925 0.160 2 160030364 intron variant G/A snv 0.35 0.010 1.000 1 2016 2016
dbSNP: rs7773456
rs7773456
2 0.925 0.160 6 19823007 intron variant T/G snv 0.35 0.700 1.000 1 2014 2014
dbSNP: rs7834765
rs7834765
2 0.925 0.160 8 121263666 regulatory region variant G/T snv 0.32 0.700 1.000 1 2014 2014
dbSNP: rs4664308
rs4664308
4 0.851 0.160 2 160060986 intron variant A/G snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs1108131
rs1108131
2 0.925 0.160 10 12455748 intron variant T/C snv 0.28 0.700 1.000 1 2016 2016