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: rs3750847
rs3750847
ARMS2 ; LOC105378525
4 0.882 0.040 10 122455905 intron variant C/T snv 0.23 0.720 1.000 3 2011 2018
dbSNP: rs3750848
rs3750848
ARMS2 ; LOC105378525
1 1.000 0.040 10 122455799 intron variant T/G snv 0.23 0.810 1.000 3 2010 2013
dbSNP: rs393955
rs393955
CFH
2 0.925 0.040 1 196723340 intron variant C/A snv 0.65 0.720 1.000 3 2012 2013
dbSNP: rs551397
rs551397
CFH
1 1.000 0.040 1 196672942 intron variant C/T snv 0.31 0.40 0.030 1.000 3 2008 2018
dbSNP: rs6428357
rs6428357
CFH
1 1.000 0.040 1 196706441 intron variant A/G snv 0.62 0.700 1.000 3 2011 2013
dbSNP: rs6685931
rs6685931
CFHR4
2 1.000 0.040 1 196898103 intron variant T/C snv 0.28 0.710 1.000 3 2011 2018
dbSNP: rs8135665
rs8135665
SLC16A8 ; LOC105373027
4 0.851 0.040 22 38080269 intron variant C/T snv 0.24 0.810 1.000 3 2013 2019
dbSNP: rs9542236
rs9542236
B3GLCT
1 1.000 0.040 13 31245188 intron variant T/C snv 0.34 0.820 0.667 3 2013 2019
dbSNP: rs1049331
rs1049331
HTRA1 ; LOC105378525
5 0.851 0.040 10 122461754 synonymous variant C/T snv 0.32 0.23 0.020 1.000 2 2013 2015
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: rs116503776
rs116503776
CYP21A2 ; SKIV2L
5 0.827 0.040 6 31962685 intron variant G/A snv 0.700 1.000 2 2016 2018
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: rs1253615192
rs1253615192
HTRA1 ; LOC105378525
2 0.925 0.040 10 122461959 missense variant C/G snv 7.0E-06 0.020 1.000 2 2008 2011
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: rs13081855
rs13081855
COL8A1
1 1.000 0.040 3 99762695 intron variant G/T snv 8.0E-02 0.810 1.000 2 2013 2019
dbSNP: rs13095226
rs13095226
COL8A1
5 0.851 0.040 3 99677428 intron variant T/C snv 9.5E-02 0.710 1.000 2 2011 2019
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: rs138195505
rs138195505
C2 ; CYP21A2
2 0.925 0.040 6 31933645 missense variant G/A;T snv 2.0E-05; 1.6E-05 0.020 1.000 2 2007 2012
dbSNP: rs140647181
rs140647181
LOC105374007
4 0.851 0.040 3 99461824 intergenic variant T/C snv 1.5E-02 0.710 1.000 2 2016 2018