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: rs114102658
rs114102658
1 1.000 0.040 6 31383313 upstream gene variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs115879499
rs115879499
2 0.925 0.080 6 31392512 downstream gene variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs116488202
rs116488202
3 0.882 0.080 6 31377139 upstream gene variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs12132349
rs12132349
1 1.000 0.040 1 200906114 intron variant T/A snv 0.22 0.700 1.000 1 2015 2015
dbSNP: rs149567432
rs149567432
1 1.000 0.040 6 31360821 upstream gene variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs17351243
rs17351243
1 1.000 0.040 1 206786182 intron variant G/A snv 0.37 0.700 1.000 1 2015 2015
dbSNP: rs2032890
rs2032890
1 1.000 0.040 5 96785448 non coding transcript exon variant A/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs4672507
rs4672507
1 1.000 0.040 2 62343438 regulatory region variant T/A snv 0.60 0.700 1.000 1 2015 2015
dbSNP: rs6690230
rs6690230
1 1.000 0.040 1 154460401 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs79755370
rs79755370
1 1.000 0.040 1 67234232 intron variant C/A snv 4.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs1048709
rs1048709
8 0.776 0.320 6 31947158 synonymous variant A/G snv 0.82 0.85 0.010 1.000 1 2012 2012
dbSNP: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.010 1.000 1 2013 2013
dbSNP: rs1495965
rs1495965
8 0.790 0.280 1 67287825 intergenic variant C/T snv 0.55 0.010 1.000 1 2013 2013
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2013 2013
dbSNP: rs33996649
rs33996649
13 0.732 0.400 1 113852067 missense variant C/T snv 1.7E-02 1.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs4505848
rs4505848
8 0.776 0.400 4 122211337 intron variant A/G snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs4788084
rs4788084
6 0.827 0.200 16 28528527 downstream gene variant C/T snv 0.36 0.010 1.000 1 2011 2011
dbSNP: rs7656411
rs7656411
8 0.790 0.320 4 153706503 downstream gene variant T/G snv 0.35 0.010 1.000 1 2019 2019
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 2012 2012
dbSNP: rs897200
rs897200
4 0.851 0.280 2 191153045 upstream gene variant T/C snv 0.54 0.010 1.000 1 2013 2013