Source: BEFREE ×
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
7 0.776 0.080 4 16013299 missense variant G/A snv 0.710 1.000 1 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 1 2019 2019
dbSNP: rs61749409
rs61749409
ABCA4
2 0.882 0.080 1 94062710 missense variant G/A snv 4.4E-05 2.1E-05 0.710 1.000 1 1999 2014
dbSNP: rs104893968
rs104893968
GUCA1A
5 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
22 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs104894459
rs104894459
NRL
3 0.882 0.080 14 24082701 missense variant A/T snv 0.010 1.000 1 2000 2000
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: rs201471607
rs201471607
ABCA4
4 0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05 0.010 1.000 1 2014 2014
dbSNP: rs398124401
rs398124401
SRD5A3
1 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs61752871
rs61752871
RPE65
3 0.827 0.080 1 68444858 missense variant G/A snv 5.6E-05 6.3E-05 0.010 1.000 1 2008 2008
dbSNP: rs61755798
rs61755798
PRPH2
4 0.827 0.080 6 42704564 missense variant G/A;C snv 0.010 1.000 1 2001 2001
dbSNP: rs786205879
rs786205879
OTX2
1 1.000 0.080 14 56802192 stop gained G/C snv 0.010 1.000 1 2009 2009