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: rs137852834
rs137852834
CEP290
13 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.700 0
dbSNP: rs144437882
rs144437882
IMPG1
1 1.000 0.040 6 76003929 missense variant G/A;T snv 4.0E-06; 7.2E-05 0.700 0
dbSNP: rs1553195472
rs1553195472
ABCA4
1 1.000 0.040 1 94098843 missense variant A/C snv 0.700 0
dbSNP: rs1553196583
rs1553196583
ABCA4
2 0.925 0.040 1 94111453 frameshift variant T/- delins 0.700 0
dbSNP: rs1553348960
rs1553348960
EFEMP1 ; LOC112268416
5 0.882 0.080 2 55870851 missense variant A/G snv 0.700 0
dbSNP: rs1553515435
rs1553515435
CERKL
3 0.925 0.040 2 181566055 splice region variant T/C snv 0.700 0
dbSNP: rs1554604767
rs1554604767
CNGB3
2 0.925 0.120 8 86578688 splice donor variant C/T snv 0.700 0
dbSNP: rs1555801963
rs1555801963
CRX
1 1.000 0.040 19 47839362 stop gained C/T snv 0.700 0
dbSNP: rs1555961220
rs1555961220
RPGR
1 1.000 0.040 X 38285546 missense variant C/A snv 0.700 0
dbSNP: rs398122391
rs398122391
SLC19A1 ; COL18A1
3 0.882 0.160 21 45510091 frameshift variant CT/- del 3.0E-04 2.9E-04 0.700 0
dbSNP: rs749537392
rs749537392
ATF6
1 1.000 0.040 1 161819741 missense variant G/A;C snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs753657349
rs753657349
PRPH2
2 0.925 0.080 6 42704568 missense variant C/A;T snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs771454167
rs771454167
CEP290
6 0.827 0.240 12 88062772 frameshift variant C/- del 4.7E-05; 5.2E-06 2.1E-05 0.700 0
dbSNP: rs777103184
rs777103184
PCARE
6 0.827 0.040 2 29073071 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs121434491
rs121434491
EFEMP1 ; LOC112268416
15 0.752 0.200 2 55871091 missense variant G/A snv 0.040 1.000 4 2011 2016
dbSNP: rs1800553
rs1800553
ABCA4
17 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.720 1.000 4 1997 2019
dbSNP: rs137853006
rs137853006
PROM1
11 0.776 0.080 4 16013299 missense variant G/A snv 0.720 1.000 3 2010 2019
dbSNP: rs139185976
rs139185976
PRPH2
3 0.882 0.080 6 42704570 missense variant C/T snv 4.8E-05 9.8E-05 0.700 1.000 2 1997 2019
dbSNP: rs1800728
rs1800728
ABCA4
8 0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04 0.700 1.000 2 2005 2019
dbSNP: rs281865377
rs281865377
ABCA4
6 0.807 0.080 1 94029447 frameshift variant G/-;GG delins 2.1E-05 0.700 1.000 2 2001 2008
dbSNP: rs398124615
rs398124615
CRB1
5 0.827 0.080 1 197328844 inframe insertion AATTGATGG/-;AATTGATGGAATTGATGG delins 7.7E-04 0.700 1.000 2 2006 2018
dbSNP: rs61755792
rs61755792
PRPH2
10 0.763 0.160 6 42721821 missense variant G/A;C snv 0.020 1.000 2 1995 2009
dbSNP: rs62636273
rs62636273
CRB1
3 0.882 0.080 1 197429460 stop gained T/A;C snv 3.2E-05 0.700 1.000 2 2004 2018
dbSNP: rs751163782
rs751163782
RAB28
5 0.882 0.040 4 13369888 missense variant A/C;G snv 4.0E-06; 1.2E-05 0.700 1.000 2 2013 2015
dbSNP: rs875989778
rs875989778
RAB28
5 0.882 0.040 4 13479429 splice donor variant C/G snv 0.700 1.000 2 2013 2015