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: rs958476
rs958476
2 0.925 0.160 11 129451923 3 prime UTR variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs8193037
rs8193037
12 0.752 0.320 6 52186311 upstream gene variant G/A;T snv 0.010 1.000 1 2019 2019
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: rs8012283
rs8012283
NIN
2 0.925 0.160 14 50767442 intron variant A/G snv 0.23 0.700 1.000 1 2014 2014
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: 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: 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: rs7773456
rs7773456
2 0.925 0.160 6 19823007 intron variant T/G snv 0.35 0.700 1.000 1 2014 2014
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: rs7692514
rs7692514
2 0.925 0.160 4 65276878 intergenic variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs763780
rs763780
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 < 0.001 1 2016 2016
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: rs6897932
rs6897932
25 0.683 0.560 5 35874473 missense variant C/T snv 0.23 0.21 0.010 < 0.001 1 2014 2014
dbSNP: rs6697139
rs6697139
2 0.925 0.160 1 161690906 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs6677604
rs6677604
CFH
7 0.827 0.200 1 196717788 intron variant G/A snv 0.23 0.010 1.000 1 2017 2017
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: rs61752717
rs61752717
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2015 2015
dbSNP: rs6056923
rs6056923
1 1.000 0.160 20 9840271 intron variant T/C snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs601162
rs601162
2 0.925 0.160 9 29632144 upstream gene variant A/C;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs5744168
rs5744168
18 0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs4984
rs4984
3 0.925 0.160 2 70673271 synonymous variant G/A snv 0.12 0.15 0.010 1.000 1 2015 2015
dbSNP: rs4958881
rs4958881
7 0.827 0.280 5 151070675 intron variant T/C snv 0.21 0.010 1.000 1 2013 2013
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: rs434082
rs434082
3 0.925 0.160 2 40257934 intron variant C/T snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs396991
rs396991
14 0.742 0.480 1 161544752 missense variant A/C;G;T snv 0.33; 4.1E-06 0.010 1.000 1 2013 2013