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: 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: 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: rs875989778
rs875989778
RAB28
5 0.882 0.040 4 13479429 splice donor variant C/G snv 0.700 1.000 2 2013 2015
dbSNP: rs104893967
rs104893967
GUCA1A
5 0.827 0.080 6 42178374 missense variant A/G snv 0.700 1.000 1 1998 1998
dbSNP: rs1201356843
rs1201356843
CRB1
1 1.000 0.040 1 197477799 missense variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1553192682
rs1553192682
ABCA4
1 1.000 0.040 1 94063115 missense variant T/C snv 0.700 1.000 1 2015 2015
dbSNP: rs1553260321
rs1553260321
CRB1
1 1.000 0.040 1 197421257 frameshift variant G/- delins 0.700 1.000 1 2018 2018
dbSNP: rs1556313414
rs1556313414
RP2
1 1.000 0.040 X 46837109 inframe deletion TCT/- delins 0.700 1.000 1 2008 2008
dbSNP: rs281865255
rs281865255
BEST1 ; LOC107984334
2 0.925 0.080 11 61959517 missense variant A/G snv 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: rs724159985
rs724159985
CDH3
2 0.925 0.160 16 68679936 frameshift variant G/- delins 0.700 1.000 1 2003 2003
dbSNP: rs778234759
rs778234759
ABCA4
3 0.925 0.040 1 94018445 intron variant C/T snv 1.3E-04 0.700 1.000 1 2019 2019
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: rs61749455
rs61749455
ABCA4
3 0.882 0.080 1 94044692 stop gained C/A;G;T snv 5.6E-04; 4.0E-06 0.700 1.000 1 2003 2003
dbSNP: rs61755793
rs61755793
PRPH2
6 0.807 0.080 6 42721820 missense variant C/T snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs104893968
rs104893968
GUCA1A
8 0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03 0.700 1.000 1 2019 2019