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: rs1064793014
rs1064793014
ABCA4
1 1 94007707 missense variant T/C snv 0.700 1.000 1 2014 2014
dbSNP: rs137853907
rs137853907
PROM1
1 4 16000517 stop gained G/T snv 2.8E-05 8.4E-05 0.700 1.000 1 2011 2011
dbSNP: rs1401818080
rs1401818080
HGSNAT
1 8 43197027 splice region variant -/A delins 4.0E-06; 1.2E-05 1.4E-05 0.700 1.000 1 2009 2009
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: 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: rs199683808
rs199683808
RPE65
1 1 68448644 missense variant G/A;C snv 1.6E-05 0.700 1.000 1 2008 2008
dbSNP: rs372513650
rs372513650
PROM1
1 4 15998489 splice acceptor variant C/G snv 3.0E-05 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs373331232
rs373331232
PROM1
1 4 16023380 stop gained G/A;C snv 1.7E-05 0.700 1.000 1 2014 2014
dbSNP: rs61752419
rs61752419
ABCA4
1 1 94042786 stop gained C/T snv 0.700 1.000 1 2001 2001
dbSNP: rs758316679
rs758316679
ABHD12
1 20 25339350 stop gained G/A snv 2.0E-05 7.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs782215106
rs782215106
RBP3
1 10 47348733 missense variant C/A;T snv 4.0E-06; 3.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs782469310
rs782469310
RBP3
1 10 47349721 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs869312183
rs869312183
TOPORS
1 9 32541986 stop gained G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs869312184
rs869312184
ABCA4
1 1 94048898 frameshift variant C/- delins 0.700 1.000 1 2016 2016
dbSNP: rs869312185
rs869312185
RPGR
1 X 38287071 stop gained G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs869312186
rs869312186
USH2A
1 1 216190298 stop gained C/A;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs869312187
rs869312187
PRPF31
1 19 54128351 stop gained C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs869312188
rs869312188
PHF3 ; EYS
1 6 63720752 frameshift variant -/CC delins 0.700 1.000 1 2016 2016
dbSNP: rs878853382
rs878853382
LCA5
1 6 79513293 frameshift variant TAGCTTC/- delins 0.700 1.000 1 2013 2013
dbSNP: rs111733491
rs111733491
LRP2
1 2 169236027 missense variant C/A;G;T snv 8.0E-06; 3.6E-05 0.700 0
dbSNP: rs1189889920
rs1189889920
IQCB1
1 3 121790208 stop gained G/A snv 7.0E-06 0.700 0