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: rs1800553
rs1800553
ABCA4
12 0.769 0.143 1 94008251 missense variant C/T snp 4.7E-03 3.5E-03 0.710 1.000 3 1997 2017
dbSNP: rs62636273
rs62636273
CRB1
3 0.878 0.071 1 197429460 stop gained T/A,C snp 3.2E-05 3.2E-05 0.700 3 2004 2018
dbSNP: rs104893967
rs104893967
GUCA1A
5 0.821 0.071 6 42178374 missense variant A/G snp 0.700 2 1998 2017
dbSNP: rs139185976
rs139185976
PRPH2
3 0.878 0.071 6 42704570 missense variant C/T snp 4.8E-05 9.6E-05 0.700 2 1997 2017
dbSNP: rs1800728
rs1800728
ABCA4
5 0.846 0.071 1 94011395 intron variant A/G snp 2.3E-04 1.6E-04 0.700 2 2005 2017
dbSNP: rs281865377
rs281865377
ABCA4
3 0.878 0.071 1 94029446 frameshift variant T/TG in-del 0.700 2 2001 2017
dbSNP: rs61748545
rs61748545
ABCA4
5 0.846 0.071 1 94080651 missense variant G/C snp 1.0E-04 5.1E-04 0.700 2 2001 2017
dbSNP: rs61748556
rs61748556
ABCA4
5 0.846 0.071 1 94063263 missense variant G/A snp 2.4E-05 0.700 2 2004 2017
dbSNP: rs61751263
rs61751263
ABCA4
3 0.878 0.071 1 94060760 splice acceptor variant C/T snp 4.2E-06 0.700 2 2000 2017
dbSNP: rs724159985
rs724159985
CDH3
2 0.923 0.143 16 68679937 frameshift variant GG/G in-del 0.700 2 2004 2017
dbSNP: rs144437882
rs144437882
IMPG1
1 1.000 0.036 6 76003929 missense variant G/A,T snp 4.0E-06; 7.2E-05 3.2E-05; 1.3E-04 0.700 1 2017 2017
dbSNP: rs398122391
rs398122391
SLC19A1 ; COL18A1
3 0.878 0.143 21 45510091 frameshift variant CCT/C in-del 5.1E-06; 3.0E-04 2.6E-04 0.700 1 2017 2017
dbSNP: rs62635654
rs62635654
CRB1
3 0.878 0.071 1 197427615 missense variant C/G,T snp 4.0E-06; 7.6E-05 9.6E-05 0.700 1 2018 2018
dbSNP: rs749537392
rs749537392
ATF6
1 1.000 0.036 1 161819741 missense variant G/A snp 2.4E-05 0.700 1 2017 2017
dbSNP: rs753657349
rs753657349
PRPH2
1 1.000 0.036 6 42704568 missense variant C/T snp 2.0E-05 9.6E-05 0.700 1 2017 2017
dbSNP: rs764256655
rs764256655
CRB1
2 0.923 0.071 1 197328935 missense variant G/T snp 1.2E-05 3.2E-05 0.700 1 2018 2018
dbSNP: rs121434491
rs121434491
EFEMP1
14 0.734 0.179 2 55871091 missense variant G/A snp 0.030 1.000 3 2012 2015
dbSNP: rs137853006
rs137853006
PROM1
12 0.756 0.143 4 16013299 missense variant G/A snp 0.020 1.000 2 2010 2018
dbSNP: rs121434542
rs121434542
CDH3
5 0.821 0.071 16 68685288 missense variant G/A snp 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs61755783
rs61755783
PRPH2
10 0.756 0.036 6 42721911 missense variant G/A snp 0.010 1.000 1 2002 2002
dbSNP: rs61755792
rs61755792
PRPH2
7 0.784 0.107 6 42721821 missense variant G/A,C snp 0.010 1.000 1 2009 2009