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: rs6656401
rs6656401
CR1
8 0.776 0.200 1 207518704 intron variant A/G;T snv 0.070 1.000 7 2011 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 2005 2019
dbSNP: rs3818361
rs3818361
CR1
6 0.851 0.080 1 207611623 intron variant A/G snv 0.74 0.030 1.000 3 2010 2014
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 < 0.001 1 2007 2007
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 < 0.001 1 2010 2010
dbSNP: rs1155002
rs1155002
2 1.000 0.080 1 59908103 intron variant T/C snv 0.66 0.010 1.000 1 2017 2017
dbSNP: rs116806486
rs116806486
CR1
1 1.000 0.080 1 207523640 missense variant A/G snv 1.6E-03 5.4E-03 0.010 1.000 1 2014 2014
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2017 2017
dbSNP: rs1805054
rs1805054
17 0.708 0.200 1 19666020 synonymous variant C/T snv 0.15; 8.0E-06 0.16 0.010 1.000 1 2004 2004
dbSNP: rs2274567
rs2274567
CR1
10 0.776 0.400 1 207580276 missense variant A/G snv 0.25 0.21 0.010 1.000 1 2014 2014
dbSNP: rs3737002
rs3737002
CR1
1 1.000 0.080 1 207587428 missense variant C/T snv 0.28 0.23 0.010 1.000 1 2014 2014
dbSNP: rs3738401
rs3738401
4 0.882 0.080 1 231694549 missense variant G/A snv 0.30 0.26 0.010 < 0.001 1 2017 2017
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2019 2019
dbSNP: rs600491
rs600491
2 0.925 0.080 1 54867852 intron variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs63750207
rs63750207
1 1.000 0.080 1 226891773 missense variant C/G;T snv 4.4E-05; 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs63750215
rs63750215
19 0.701 0.240 1 226885603 missense variant A/T snv 0.010 1.000 1 2010 2010
dbSNP: rs6675281
rs6675281
7 0.827 0.080 1 231818355 missense variant C/T snv 0.11 0.14 0.010 1.000 1 2017 2017
dbSNP: rs6691117
rs6691117
CR1
2 1.000 0.080 1 207609586 missense variant A/G snv 0.32 0.41 0.010 1.000 1 2014 2014
dbSNP: rs768623239
rs768623239
26 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 0.010 1.000 1 2018 2018
dbSNP: rs821616
rs821616
13 0.752 0.200 1 232008852 missense variant A/T snv 0.26 0.29 0.010 < 0.001 1 2017 2017
dbSNP: rs890293
rs890293
4 0.851 0.200 1 59926822 upstream gene variant C/A snv 8.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs744373
rs744373
8 0.851 0.160 2 127137039 downstream gene variant A/G snv 0.35 0.030 1.000 3 2011 2018
dbSNP: rs10197851
rs10197851
1 1.000 0.080 2 10345283 intron variant A/G snv 0.52 0.010 1.000 1 2011 2011
dbSNP: rs1060743
rs1060743
2 0.925 0.080 2 127068957 synonymous variant A/G snv 0.34 0.29 0.010 1.000 1 2014 2014
dbSNP: rs13306190
rs13306190
7 0.807 0.320 2 21032408 missense variant G/A;C;T snv 1.7E-04; 8.0E-06 0.010 1.000 1 2019 2019