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: rs104893769
rs104893769
RHO
6 0.807 0.160 3 129528783 missense variant C/T snv 7.0E-06 0.750 1.000 6 2014 2019
dbSNP: rs80338902
rs80338902
USH2A
10 0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03 0.750 1.000 6 2000 2019
dbSNP: rs147394623
rs147394623
DHDDS
4 0.882 0.080 1 26438228 missense variant A/G snv 2.3E-04 1.5E-04 0.740 1.000 7 2011 2018
dbSNP: rs29001566
rs29001566
RHO
10 0.807 0.080 3 129533711 missense variant C/A;G;T snv 0.740 0.800 5 1990 2019
dbSNP: rs121909398
rs121909398
CERKL
7 0.827 0.080 2 181558617 stop gained G/A;C snv 3.5E-04; 4.0E-06 0.730 1.000 9 2004 2019
dbSNP: rs775557680
rs775557680
RHO
3 0.882 0.080 3 129532261 missense variant G/A;C snv 8.0E-06 0.730 1.000 5 1991 2019
dbSNP: rs104893775
rs104893775
RHO
7 0.807 0.160 3 129530917 missense variant C/T snv 0.730 1.000 4 2006 2019
dbSNP: rs104893773
rs104893773
RHO
3 0.882 0.080 3 129529049 missense variant G/A;T snv 1.6E-05 0.720 1.000 3 1999 2019
dbSNP: rs104893779
rs104893779
RHO
4 0.851 0.080 3 129532288 missense variant G/A;T snv 4.0E-06 0.720 1.000 3 1993 2013
dbSNP: rs121912631
rs121912631
NR2E3
4 0.851 0.080 15 71811530 missense variant G/A;T snv 0.720 1.000 3 2009 2019
dbSNP: rs267607077
rs267607077
SNRNP200
4 0.882 0.080 2 96287968 missense variant G/A snv 4.0E-06 0.720 1.000 2 2009 2014
dbSNP: rs61748436
rs61748436
CRX
4 0.851 0.080 19 47836264 missense variant G/A snv 1.4E-05 0.710 1.000 4 1997 2001
dbSNP: rs104894559
rs104894559
CA4
3 0.882 0.200 17 60150074 missense variant C/T snv 2.5E-04 1.4E-04 0.710 1.000 3 2004 2005
dbSNP: rs28937873
rs28937873
NR2E3
7 0.807 0.160 15 71813573 missense variant G/A snv 4.0E-04 3.1E-04 0.710 1.000 2 2009 2019
dbSNP: rs61751374
rs61751374
ABCA4
10 0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 0.710 1.000 2 2008 2019
dbSNP: rs61755800
rs61755800
PRPH2
3 0.882 0.080 6 42704559 missense variant T/C;G snv 8.0E-06 0.710 1.000 2 1993 2008
dbSNP: rs62645944
rs62645944
ABCA4
7 0.807 0.080 1 94098794 splice region variant C/A snv 8.8E-05 6.3E-05 0.710 1.000 2 2004 2019
dbSNP: rs104893772
rs104893772
RHO
2 0.925 0.080 3 129528999 missense variant G/A;C snv 0.710 1.000 1 2011 2011
dbSNP: rs104893781
rs104893781
RHO
3 0.882 0.080 3 129532636 missense variant C/T snv 0.710 1.000 1 1997 1997
dbSNP: rs104893786
rs104893786
RHO
3 0.882 0.080 3 129528777 missense variant A/G snv 0.710 1.000 1 1998 1998
dbSNP: rs112029032
rs112029032
HGSNAT
4 0.882 0.160 8 43199504 missense variant G/A snv 4.1E-03 3.6E-03 0.710 1.000 1 2015 2015
dbSNP: rs200946638
rs200946638
RHO
2 0.925 0.080 3 129528786 missense variant G/A;C snv 8.0E-05; 8.0E-06 0.710 1.000 1 2019 2019
dbSNP: rs267606691
rs267606691
PCARE
2 0.925 0.080 2 29073706 stop gained G/A;C;T snv 8.0E-06; 4.8E-05 0.710 1.000 1 2010 2010
dbSNP: rs527236067
rs527236067
PHF3 ; EYS
1 1.000 0.080 6 63721226 stop gained G/T snv 3.2E-05 2.1E-05 0.710 1.000 1 2012 2012
dbSNP: rs527236076
rs527236076
PHF3 ; EYS
1 1.000 0.080 6 63762520 stop gained A/T snv 1.3E-05 0.710 1.000 1 2019 2019