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: rs1556313414
rs1556313414
RP2
1 1.000 0.040 X 46837109 inframe deletion TCT/- delins 0.700 1.000 1 2008 2008
dbSNP: rs1553192682
rs1553192682
ABCA4
1 1.000 0.040 1 94063115 missense variant T/C snv 0.700 1.000 1 2015 2015
dbSNP: rs201471607
rs201471607
ABCA4
7 0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05 0.700 1.000 1 2019 2019
dbSNP: rs1553515435
rs1553515435
CERKL
3 0.925 0.040 2 181566055 splice region variant T/C snv 0.700 0
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: rs1033920857
rs1033920857
PROM1
3 0.882 0.040 4 15984309 missense variant T/A;C snv 4.1E-06 0.010 1.000 1 2017 2017
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: rs1553196583
rs1553196583
ABCA4
2 0.925 0.040 1 94111453 frameshift variant T/- delins 0.700 0
dbSNP: rs764256655
rs764256655
CRB1
2 0.925 0.080 1 197328935 missense variant G/T snv 1.2E-05 5.6E-05 0.700 1.000 1 2018 2018
dbSNP: rs61748545
rs61748545
ABCA4
2 0.925 0.040 1 94080651 missense variant G/C snv 1.0E-04 3.8E-04 0.700 1.000 1 2001 2001
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: rs61755792
rs61755792
PRPH2
10 0.763 0.160 6 42721821 missense variant G/A;C snv 0.020 1.000 2 1995 2009
dbSNP: rs62625014
rs62625014
CNGA1 ; NIPAL1 ; LOC101927157
4 0.851 0.080 4 47937535 missense variant G/A;C snv 1.1E-03; 2.4E-05 0.700 1.000 1 2019 2019
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: rs121434491
rs121434491
EFEMP1 ; LOC112268416
15 0.752 0.200 2 55871091 missense variant G/A snv 0.040 1.000 4 2011 2016
dbSNP: rs137853006
rs137853006
PROM1
11 0.776 0.080 4 16013299 missense variant G/A snv 0.720 1.000 3 2010 2019
dbSNP: rs1195312059
rs1195312059
ERG
3 0.882 0.040 21 38403680 missense variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs267606875
rs267606875
IMPG2
2 0.925 0.040 3 101242820 stop gained G/A snv 1.2E-05 2.1E-05 0.700 1.000 1 2019 2019
dbSNP: rs267607017
rs267607017
RP1L1
4 0.851 0.080 8 10623069 missense variant G/A snv 2.0E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs281865239
rs281865239
BEST1 ; LOC107984334
3 0.882 0.080 11 61957403 missense variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs61748556
rs61748556
ABCA4
2 0.925 0.040 1 94063263 missense variant G/A snv 2.4E-05 2.8E-05 0.700 1.000 1 2003 2003
dbSNP: rs61751374
rs61751374
ABCA4
10 0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 0.700 1.000 1 2019 2019
dbSNP: rs61755814
rs61755814
PRPH2
1 1.000 0.040 6 42704478 stop gained G/A snv 0.700 1.000 1 2019 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: rs1553260321
rs1553260321
CRB1
1 1.000 0.040 1 197421257 frameshift variant G/- delins 0.700 1.000 1 2018 2018