Source: ALL
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: rs1061147
rs1061147
CFH
1 1.000 0.040 1 196685194 synonymous variant A/C snv 0.68 0.62 0.810 1.000 2 2007 2013
dbSNP: rs10801551
rs10801551 		2 1.000 0.040 1 196610909 upstream gene variant G/A;C snv 0.700 1.000 2 2013 2013
dbSNP: rs10801553
rs10801553
CFH
2 1.000 0.040 1 196686613 intron variant A/C snv 0.64 0.700 1.000 2 2013 2013
dbSNP: rs10922082
rs10922082
KCNT2
1 1.000 0.040 1 196544564 intron variant G/A snv 0.30 0.700 1.000 2 2013 2013
dbSNP: rs10922152
rs10922152
CFHR5
1 1.000 0.040 1 196993876 intron variant T/A snv 0.38 0.700 1.000 2 2010 2013
dbSNP: rs12038333
rs12038333
CFH
2 1.000 0.040 1 196703324 intron variant G/A snv 0.64 0.700 1.000 2 2010 2013
dbSNP: rs12061508
rs12061508 		3 1.000 0.040 1 196615338 intergenic variant G/A snv 0.23 0.700 1.000 2 2013 2013
dbSNP: rs12755054
rs12755054
CFHR5
2 1.000 0.040 1 196977900 intron variant T/A;C snv 0.700 1.000 2 2013 2013
dbSNP: rs1329424
rs1329424
CFH
1 1.000 0.040 1 196677046 non coding transcript exon variant T/G snv 0.66 0.800 1.000 2 2010 2013
dbSNP: rs1332666
rs1332666 		1 1.000 0.040 1 197015549 intergenic variant A/G;T snv 0.700 1.000 2 2011 2013
dbSNP: rs148553336
rs148553336 		4 0.851 0.040 1 196644043 intergenic variant T/C snv 7.7E-03 0.710 1.000 2 2016 2018
dbSNP: rs16840224
rs16840224
KCNT2
1 1.000 0.040 1 196600551 intron variant C/T snv 0.27 0.700 1.000 2 2013 2013
dbSNP: rs16840639
rs16840639 		2 0.925 0.120 1 196855643 intron variant T/C snv 0.23 0.710 1.000 2 2013 2013
dbSNP: rs1831282
rs1831282
CFH
2 1.000 0.040 1 196704863 intron variant A/C snv 0.62 0.800 1.000 2 2013 2013
dbSNP: rs1853882
rs1853882
CFHR4 ; LOC105371675
1 1.000 0.040 1 196916214 intron variant C/G snv 0.21 0.700 1.000 2 2010 2013
dbSNP: rs191281603
rs191281603
CFHR5
4 0.851 0.040 1 196989521 intron variant C/G;T snv 4.6E-03 0.710 1.000 2 2016 2018
dbSNP: rs2019724
rs2019724
CFH
1 1.000 0.040 1 196705787 intron variant T/C snv 0.62 0.700 1.000 2 2011 2013
dbSNP: rs203687
rs203687
CFH
1 1.000 0.040 1 196705140 intron variant C/T snv 0.71 0.700 1.000 2 2013 2013
dbSNP: rs2133138
rs2133138 		1 1.000 0.040 1 196874041 intron variant G/A snv 0.22 0.700 1.000 2 2013 2013
dbSNP: rs2336503
rs2336503 		1 1.000 0.040 1 196874290 intron variant C/A snv 0.22 0.700 1.000 2 2013 2013
dbSNP: rs3219489
rs3219489
MUTYH
24 0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 0.020 1.000 2 2012 2012
dbSNP: rs35292876
rs35292876
CFH
4 0.851 0.040 1 196737512 synonymous variant C/T snv 1.0E-02 8.6E-03 0.710 1.000 2 2016 2018
dbSNP: rs3753395
rs3753395
CFH
5 0.882 0.120 1 196717522 intron variant A/G;T snv 0.710 1.000 2 2013 2016
dbSNP: rs3753396
rs3753396
CFH
2 0.925 0.080 1 196726612 synonymous variant A/G snv 0.20 0.15 0.020 1.000 2 2015 2018
dbSNP: rs3766404
rs3766404
CFH
2 1.000 0.040 1 196682702 intron variant T/C snv 0.22 0.710 1.000 2 2013 2019