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: rs104893783
rs104893783
RHO
2 0.925 0.080 3 129532581 stop gained G/A;T snv 4.0E-06; 2.0E-05 0.010 1.000 1 1993 1993
dbSNP: rs104893786
rs104893786
RHO
3 0.882 0.080 3 129528777 missense variant A/G snv 0.710 1.000 1 1998 1998
dbSNP: rs104893787
rs104893787
RHO
3 0.882 0.080 3 129529062 missense variant G/A snv 0.010 1.000 1 1999 1999
dbSNP: rs104893790
rs104893790
RHO
4 0.851 0.080 3 129529002 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs104893791
rs104893791
RHO
4 0.851 0.080 3 129530962 missense variant G/A;C snv 4.8E-05; 1.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs104893793
rs104893793
RHO
4 0.851 0.080 3 129531005 missense variant C/A;T snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs104893967
rs104893967
GUCA1A
5 0.827 0.080 6 42178374 missense variant A/G snv 0.700 1.000 1 1998 1998
dbSNP: rs104894082
rs104894082
RP1
3 0.882 0.080 8 54625911 stop gained C/T snv 0.010 1.000 1 2003 2003
dbSNP: rs104894373
rs104894373
RDH5 ; BLOC1S1-RDH5
4 0.851 0.080 12 55721908 missense variant T/G snv 8.1E-06 0.010 1.000 1 2000 2000
dbSNP: rs104894459
rs104894459
NRL
4 0.882 0.080 14 24082701 missense variant A/T snv 0.010 1.000 1 2003 2003
dbSNP: rs104894474
rs104894474
GPHN ; RDH12
3 0.882 0.080 14 67726086 stop gained G/T snv 0.700 1.000 1 2019 2019
dbSNP: rs104894475
rs104894475
GPHN ; RDH12
2 0.925 0.080 14 67726983 missense variant C/A;G snv 8.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs104894598
rs104894598
NAGLU
3 0.882 0.160 17 42543700 missense variant G/A;C;T snv 4.4E-05; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs104894927
rs104894927
RP2
4 0.882 0.080 X 46853731 stop gained C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs1057519316
rs1057519316
REEP6
2 0.925 0.080 19 1496340 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs111033260
rs111033260
PCDH15
7 0.790 0.200 10 54317414 stop gained G/A;T snv 2.2E-04; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs111033267
rs111033267
CLRN1 ; CLRN1-AS1
5 0.851 0.200 3 150972520 stop gained G/A;T snv 1.2E-05; 1.2E-05 0.700 1.000 1 2002 2002
dbSNP: rs111033334
rs111033334
USH2A
9 0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs115352681
rs115352681
CRB1
1 1.000 0.080 1 197421010 stop gained C/A;T snv 1.2E-05; 9.2E-05 0.700 1.000 1 2019 2019
dbSNP: rs1165535552
rs1165535552
PRPF31
1 1.000 0.080 19 54118625 missense variant C/G snv 0.010 1.000 1 2018 2018
dbSNP: rs119475042
rs119475042
PRPF31
3 0.882 0.080 19 54123867 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121912550
rs121912550
IMPDH1
5 0.827 0.120 7 128398557 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs121912552
rs121912552
IMPDH1
3 0.882 0.080 7 128398562 missense variant C/G snv 0.010 1.000 1 2010 2010
dbSNP: rs121918582
rs121918582
PDE6B ; PDE6B-AS1
3 0.882 0.080 4 653912 missense variant C/A snv 0.010 1.000 1 2007 2007
dbSNP: rs1236550448
rs1236550448
RHO
1 1.000 0.080 3 129532273 missense variant T/C snv 0.010 1.000 1 2014 2014