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: rs572515
rs572515
CFH
2 0.925 0.160 1 196677131 non coding transcript exon variant A/G;T snv 0.710 1.000 4 2008 2013
dbSNP: rs61755792
rs61755792
PRPH2
10 0.763 0.160 6 42721821 missense variant G/A;C snv 0.040 1.000 4 1995 2014
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: rs111033578
rs111033578
MFRP ; C1QTNF5
5 0.827 0.200 11 119339574 missense variant G/C snv 0.030 1.000 3 2005 2018
dbSNP: rs1713985
rs1713985
REST
4 0.882 0.040 4 56920284 intron variant G/T snv 0.92 0.820 0.667 3 2011 2013
dbSNP: rs1999930
rs1999930
FRK
3 0.882 0.040 6 116065971 intergenic variant C/A;G;T snv 0.820 0.667 3 2011 2018
dbSNP: rs200483076
rs200483076
SYN3
1 1.000 0.040 22 32688525 intron variant A/C snv 0.700 1.000 3 2010 2011
dbSNP: rs2014307
rs2014307
LOC105378525
2 0.925 0.160 10 122458116 intron variant T/G snv 0.63 0.710 1.000 3 2008 2010
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: rs2072633
rs2072633
CFB ; CYP21A2 ; NELFE
6 0.807 0.320 6 31951801 3 prime UTR variant A/G snv 0.59 0.030 1.000 3 2009 2019
dbSNP: rs2301995
rs2301995
ELN
3 0.882 0.160 7 74037810 non coding transcript exon variant G/A snv 0.11 0.030 1.000 3 2011 2011
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: rs3025039
rs3025039
VEGFA
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.030 1.000 3 2013 2016
dbSNP: rs3087404
rs3087404
SMUG1 ; LOC105369777
3 0.925 0.080 12 54187830 5 prime UTR variant T/C snv 0.47 0.030 1.000 3 2012 2017
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: rs541862
rs541862
CFB ; CYP21A2
3 0.882 0.160 6 31949174 non coding transcript exon variant T/C snv 0.12 0.810 1.000 3 2012 2013
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: rs6677604
rs6677604
CFH
7 0.827 0.200 1 196717788 intron variant G/A snv 0.23 0.720 1.000 3 2013 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