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: rs833069
rs833069
5 0.851 0.200 6 43774842 non coding transcript exon variant T/C;G snv 0.020 1.000 2 2012 2015
dbSNP: rs1042229
rs1042229
7 0.790 0.280 19 51746419 missense variant A/C;G snv 0.32; 0.13 0.010 1.000 1 2014 2014
dbSNP: rs13269021
rs13269021
2 0.925 0.040 8 6539242 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs138195505
rs138195505
2 0.925 0.040 6 31933645 missense variant G/A;T snv 2.0E-05; 1.6E-05 0.010 1.000 1 2012 2012
dbSNP: rs1532085
rs1532085
13 0.882 0.080 15 58391167 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs17030
rs17030
C3
2 0.925 0.080 19 6677978 synonymous variant G/A;C snv 0.52; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1999930
rs1999930
FRK
3 0.882 0.040 6 116065971 intergenic variant C/A;G;T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs2274700
rs2274700
CFH
11 0.776 0.240 1 196713817 synonymous variant G/A;C;T snv 0.44 0.010 1.000 1 2015 2015
dbSNP: rs2293870
rs2293870
4 0.851 0.160 10 122461760 synonymous variant G/C;T snv 5.9E-02; 0.32 0.010 1.000 1 2016 2016
dbSNP: rs3775291
rs3775291
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 < 0.001 1 2011 2011
dbSNP: rs42524
rs42524
6 0.827 0.160 7 94413927 missense variant C/A;G;T snv 8.0E-06; 0.77; 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs5882
rs5882
35 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 0.010 1.000 1 2013 2013
dbSNP: rs641153
rs641153
7 0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06 0.010 1.000 1 2009 2009
dbSNP: rs78488639
rs78488639
3 0.882 0.160 19 51746706 missense variant G/A;T snv 1.2E-05; 8.6E-03 0.010 1.000 1 2014 2014
dbSNP: rs867229
rs867229
3 0.882 0.160 19 51745746 3 prime UTR variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs9332739
rs9332739
10 0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs754100400
rs754100400
2 0.925 0.040 1 201211089 missense variant A/G snv 7.1E-06 4.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs2303790
rs2303790
19 0.724 0.280 16 56983380 missense variant A/G snv 2.6E-03 6.5E-04 0.010 1.000 1 2018 2018
dbSNP: rs77466370
rs77466370
1 1.000 12 95210298 missense variant T/C snv 2.6E-03 8.2E-04 0.010 1.000 1 2016 2016
dbSNP: rs369149111
rs369149111
1 1.000 10 122461711 missense variant C/T snv 2.1E-02 9.0E-03 0.010 1.000 1 2016 2016
dbSNP: rs4151667
rs4151667
9 0.790 0.320 6 31946247 missense variant T/A snv 3.9E-02 3.4E-02 0.020 1.000 2 2009 2014
dbSNP: rs9621532
rs9621532
4 0.851 0.040 22 32688525 intron variant A/C snv 5.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs13095226
rs13095226
5 0.851 0.040 3 99677428 intron variant T/C snv 9.5E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs12678919
rs12678919
10 0.882 0.080 8 19986711 intergenic variant A/G snv 1.0E-01 0.020 < 0.001 2 2013 2015
dbSNP: rs2301995
rs2301995
ELN
3 0.882 0.160 7 74037810 non coding transcript exon variant G/A snv 0.11 0.020 0.500 2 2011 2011