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: rs137853006
rs137853006
PROM1
11 0.776 0.080 4 16013299 missense variant G/A snv 0.710 1.000 2 2008 2010
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: 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
dbSNP: rs1563329888
rs1563329888
RP1
2 1.000 0.080 8 54625333 stop gained C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs386834261
rs386834261
GPHN ; ZFYVE26 ; RDH12
5 0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05 0.700 1.000 1 2004 2004
dbSNP: rs397515360
rs397515360
CNGB3
8 0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03 0.700 1.000 1 2000 2000
dbSNP: rs61750173
rs61750173
GUCY2D
6 0.827 0.080 17 8014701 missense variant G/A snv 0.700 1.000 1 2001 2001
dbSNP: rs61752419
rs61752419
ABCA4
1 1 94042786 stop gained C/T snv 0.700 1.000 1 2001 2001
dbSNP: rs61755798
rs61755798
PRPH2
6 0.827 0.080 6 42704564 missense variant G/A;C snv 0.010 1.000 1 2001 2001
dbSNP: rs727503715
rs727503715
USH2A
2 1.000 1 215674537 frameshift variant T/- delins 1.4E-05 0.700 1.000 1 2007 2007
dbSNP: rs764759172
rs764759172
ABCA4
3 0.925 0.040 1 94080692 frameshift variant G/- del 0.700 1.000 1 2011 2011