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: rs201459901
rs201459901 		4 0.851 0.040 20 58078668 regulatory region variant -/A delins 0.21 0.700 1.000 1 2016 2016
dbSNP: rs5817082
rs5817082
CETP
4 0.851 0.040 16 56963437 intron variant -/A delins 0.700 1.000 1 2016 2016
dbSNP: rs58978565
rs58978565
TNR
3 0.882 0.040 1 175376466 intron variant -/AGAGT ins 0.37 0.010 1.000 1 2018 2018
dbSNP: rs71507014
rs71507014
TRPM3
4 0.851 0.040 9 70823689 intron variant -/C;CC delins 0.700 1.000 1 2016 2016
dbSNP: rs10737680
rs10737680
CFH
9 0.827 0.080 1 196710325 intron variant A/C snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs11080055
rs11080055
TMEM97
5 0.851 0.040 17 28322698 intron variant A/C snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs2740488
rs2740488
ABCA1
9 0.827 0.120 9 104899461 intron variant A/C snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs9621532
rs9621532
SYN3
4 0.851 0.040 22 32688525 intron variant A/C snv 5.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs722782
rs722782 		1 1.000 0.040 8 566479 intergenic variant A/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs114254831
rs114254831
PBX2
5 0.827 0.040 6 32187804 intron variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1460548929
rs1460548929
PRKCSH
2 0.925 0.040 19 11442432 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1789110
rs1789110 		2 0.925 0.040 18 77147088 regulatory region variant C/A snv 0.63 0.710 1.000 2 2012 2014
dbSNP: rs10922109
rs10922109
CFH
6 0.827 0.080 1 196735502 intron variant C/A snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs3138141
rs3138141
RDH5 ; BLOC1S1-RDH5
5 0.827 0.040 12 55721994 3 prime UTR variant C/A snv 0.19 0.16 0.700 1.000 1 2016 2016
dbSNP: rs72802342
rs72802342 		5 0.851 0.040 16 75200974 downstream gene variant C/A snv 6.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs121918567
rs121918567
PRPH2
6 0.807 0.080 6 42704609 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1253615192
rs1253615192
HTRA1 ; LOC105378525
2 0.925 0.040 10 122461959 missense variant C/G snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs3775291
rs3775291
TLR3
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.030 1.000 3 2008 2016
dbSNP: rs148060787
rs148060787
FTH1 ; BEST1
5 0.851 0.080 11 61962853 missense variant C/G;T snv 4.4E-04 0.010 1.000 1 2001 2001
dbSNP: rs17231506
rs17231506
CETP
10 0.851 0.040 16 56960616 upstream gene variant C/G;T snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs191281603
rs191281603
CFHR5
4 0.851 0.040 1 196989521 intron variant C/G;T snv 4.6E-03 0.700 1.000 1 2016 2016
dbSNP: rs281865275
rs281865275
BEST1 ; LOC107984334
5 0.851 0.080 11 61957397 missense variant C/G;T snv 8.0E-06; 2.8E-05 0.010 1.000 1 2001 2001
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.760 1.000 7 2006 2018
dbSNP: rs1142
rs1142
SRPK2
6 0.851 0.040 7 105115879 intron variant C/T snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs121913059
rs121913059
CFH
16 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.700 1.000 1 2016 2016