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: rs76216585
rs76216585
POC1B
9 0.807 0.160 12 89492071 stop gained C/A;G;T snv 8.5E-06; 2.7E-04 0.700 1.000 3 2014 2014
dbSNP: rs137853006
rs137853006
PROM1
11 0.776 0.080 4 16013299 missense variant G/A snv 0.710 1.000 2 2008 2010
dbSNP: rs147346345
rs147346345
CDHR1
2 1.000 0.040 10 84203123 splice region variant G/A;C;T snv 2.9E-03; 4.0E-06 0.710 1.000 2 2019 2019
dbSNP: rs76157638
rs76157638
ABCA4
6 0.851 0.080 1 94051698 missense variant C/G;T snv 4.4E-03; 4.0E-06 0.700 1.000 2 1997 2019
dbSNP: rs104893968
rs104893968
GUCA1A
8 0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03 0.010 1.000 1 2019 2019
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs104894459
rs104894459
NRL
4 0.882 0.080 14 24082701 missense variant A/T snv 0.010 1.000 1 2000 2000
dbSNP: rs104894927
rs104894927
RP2
4 0.882 0.080 X 46853731 stop gained C/T snv 0.700 1.000 1 1999 1999
dbSNP: rs1052954321
rs1052954321
ALPK1
6 0.882 4 112427580 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs1064793014
rs1064793014
ABCA4
1 1 94007707 missense variant T/C snv 0.700 1.000 1 2014 2014
dbSNP: rs121434491
rs121434491
EFEMP1 ; LOC112268416
15 0.752 0.200 2 55871091 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs121908180
rs121908180
BBS2
3 0.925 0.120 16 56506191 stop gained G/A snv 1.2E-05 0.700 1.000 1 2019 2019
dbSNP: rs121909398
rs121909398
CERKL
7 0.827 0.080 2 181558617 stop gained G/A;C snv 3.5E-04; 4.0E-06 0.700 1.000 1 2004 2004
dbSNP: rs137853005
rs137853005
PROM1
3 0.925 0.080 4 15994028 stop gained G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs145282040
rs145282040
CRB1
2 1.000 0.080 1 197427454 missense variant A/G;T snv 1.6E-05 0.700 1.000 1 2010 2010
dbSNP: rs1553186896
rs1553186896
ABCA4
2 1.000 1 94005490 missense variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs1553190559
rs1553190559
ABCA4
1 1 94042790 missense variant A/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1553192432
rs1553192432
ABCA4
1 1 94060712 frameshift variant -/C delins 0.700 1.000 1 2013 2013
dbSNP: rs1553192726
rs1553192726
ABCA4
2 1.000 0.080 1 94063315 stop gained G/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1553263218
rs1553263218
CRB1
1 1 197435404 frameshift variant -/G delins 0.700 1.000 1 2007 2007
dbSNP: rs1554270834
rs1554270834
PRPH2
1 6 42722069 frameshift variant GCTGGGTC/- del 0.700 1.000 1 2014 2014
dbSNP: rs1554824273
rs1554824273
RGR
1 10 84258712 3 prime UTR variant -/G delins 0.700 1.000 1 1999 1999
dbSNP: rs1555096248
rs1555096248
BEST1
1 11 61950428 splice donor variant G/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1556318633
rs1556318633
RP2
3 0.925 0.080 X 46853725 missense variant C/T snv 0.700 1.000 1 2003 2003
dbSNP: rs1557106557
rs1557106557
CACNA1F
2 1.000 0.040 X 49212756 missense variant G/A snv 0.700 1.000 1 2015 2015