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: rs1047376
rs1047376
ABCA4
1 1.000 1 94041354 missense variant A/G;T snv 4.0E-06 0.700 1.000 2 2014 2017
dbSNP: rs1057518767
rs1057518767
ABCA4
5 0.851 0.120 1 94098874 missense variant A/T snv 0.700 0
dbSNP: rs113106943
rs113106943
ABCA4
2 0.925 0.040 1 94021848 missense variant C/T snv 2.4E-03 2.3E-03 0.700 1.000 2 2015 2017
dbSNP: rs121909204
rs121909204
ABCA4
1 1.000 1 94043443 missense variant G/A snv 0.700 0
dbSNP: rs121909205
rs121909205
ABCA4
2 1.000 1 94120994 missense variant G/A;T snv 1.6E-05; 3.6E-05 0.800 1.000 21 1997 2017
dbSNP: rs121909206
rs121909206
ABCA4
2 0.925 0.080 1 94015766 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs121909207
rs121909207
ABCA4
1 1.000 1 94014665 missense variant G/A;C snv 1.1E-04 0.700 1.000 19 1997 2014
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
5 0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04 0.700 1.000 1 2019 2019
dbSNP: rs1297857869
rs1297857869
ABCA4
1 1.000 1 94011330 missense variant A/G snv 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs137853006
rs137853006
PROM1
11 0.776 0.080 4 16013299 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1402837406
rs1402837406
KCNV2
3 0.882 0.080 9 2718093 frameshift variant CC/-;CCC delins 2.8E-05 0.700 1.000 1 2019 2019
dbSNP: rs140482171
rs140482171
ABCA4
1 1.000 1 94077712 missense variant C/T snv 7.8E-04 4.1E-04 0.700 1.000 1 2012 2012
dbSNP: rs142253670
rs142253670
ABCA4
1 1.000 1 94008252 missense variant C/T snv 9.1E-05 7.0E-05 0.700 1.000 3 2013 2017
dbSNP: rs1435203678
rs1435203678
ABCA4
1 1.000 1 94019690 missense variant G/A;C snv 8.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs145525174
rs145525174
ABCA4
1 1.000 1 94063218 missense variant C/T snv 2.7E-03 2.4E-03 0.700 1.000 2 2013 2017
dbSNP: rs1457937638
rs1457937638
ABCA4
1 1.000 1 94027444 intron variant C/A;T snv 0.700 0
dbSNP: rs145961131
rs145961131
ABCA4
1 1.000 1 94062608 stop gained G/A snv 2.0E-05 2.1E-05 0.700 1.000 1 2011 2011
dbSNP: rs148460146
rs148460146
ABCA4
1 1.000 1 94005469 missense variant C/T snv 3.1E-04 2.6E-04 0.700 0
dbSNP: rs150774447
rs150774447
ABCA4
2 1.000 1 94111579 missense variant C/A;T snv 4.0E-06; 2.4E-05 0.800 1.000 23 1997 2017
dbSNP: rs1553186896
rs1553186896
ABCA4
2 1.000 1 94005490 missense variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1553188682
rs1553188682
ABCA4
1 1.000 1 94021892 missense variant A/C snv 0.700 0
dbSNP: rs1553189507
rs1553189507
ABCA4
1 1.000 1 94031121 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1553190664
rs1553190664
ABCA4
1 1.000 1 94043445 stop gained A/C snv 0.700 1.000 1 2015 2015
dbSNP: rs1553192715
rs1553192715
ABCA4
1 1.000 1 94063250 frameshift variant AG/- delins 0.700 0
dbSNP: rs1553196583
rs1553196583
ABCA4
2 0.925 0.040 1 94111453 frameshift variant T/- delins 0.700 0