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: rs1045216
rs1045216
PLEKHA1
1 1.000 0.040 10 122429681 missense variant A/G snv 0.68 0.69 0.730 0.750 4 2013 2018
dbSNP: rs10801555
rs10801555
CFH
1 1.000 0.040 1 196691131 intron variant A/G snv 0.64 0.800 1.000 4 2011 2013
dbSNP: rs1467528955
rs1467528955
C2 ; CYP21A2
1 1.000 0.040 6 31933767 missense variant G/A snv 1.2E-05 7.0E-06 0.040 1.000 4 2006 2010
dbSNP: rs1853883
rs1853883
CFHR4 ; LOC105371675
1 1.000 0.040 1 196912470 intron variant G/C;T snv 0.710 1.000 4 2010 2013
dbSNP: rs6667243
rs6667243 		1 1.000 0.040 1 196972363 downstream gene variant T/C snv 0.62 0.710 1.000 4 2011 2013
dbSNP: rs8017304
rs8017304
RAD51B
1 1.000 0.040 14 68318360 intron variant G/A snv 0.54 0.830 1.000 4 2013 2019
dbSNP: rs10733086
rs10733086
CFH
1 1.000 0.040 1 196707805 intron variant A/C;T snv 0.800 1.000 3 2013 2018
dbSNP: rs10922153
rs10922153
CFHR5
1 1.000 0.040 1 197009485 3 prime UTR variant T/G snv 0.38 0.710 1.000 3 2010 2013
dbSNP: rs1800555
rs1800555
ABCA4
1 1.000 0.040 1 93998061 missense variant C/T snv 1.1E-02 1.0E-02 0.030 0.667 3 2000 2015
dbSNP: rs200483076
rs200483076
SYN3
1 1.000 0.040 22 32688525 intron variant A/C snv 0.700 1.000 3 2010 2011
dbSNP: rs2019727
rs2019727
CFH
1 1.000 0.040 1 196705584 intron variant T/A snv 0.24 0.700 1.000 3 2010 2013
dbSNP: rs203674
rs203674
CFH
1 1.000 0.040 1 196715495 intron variant G/T snv 0.65 0.710 1.000 3 2010 2015
dbSNP: rs2672587
rs2672587
HTRA1
1 1.000 0.040 10 122475839 intron variant G/C;T snv 0.710 1.000 3 2010 2013
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: 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: 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: 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