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: rs104893768
rs104893768
RHO
11 0.807 0.080 3 129528801 missense variant C/A snv 0.100 0.950 20 1992 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: 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: 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: rs62625014
rs62625014
CNGA1 ; NIPAL1 ; LOC101927157
4 0.851 0.080 4 47937535 missense variant G/A;C snv 1.1E-03; 2.4E-05 0.700 1.000 4 1995 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: rs1310063298
rs1310063298
ADRA1A
2 1.000 0.080 8 26864701 missense variant C/A snv 4.0E-06 0.030 1.000 3 2013 2017
dbSNP: rs189234741
rs189234741
CNGB1
2 0.925 0.080 16 57962611 splice acceptor variant C/G;T snv 4.0E-06; 7.2E-05 0.700 1.000 3 2011 2015
dbSNP: rs727504075
rs727504075
PDE6B
2 0.925 0.080 4 664945 splice donor variant G/A;T snv 7.2E-05; 4.0E-06 0.700 1.000 3 1995 2019
dbSNP: rs750727986
rs750727986
CRX
1 1.000 0.080 19 47839411 missense variant G/A;C snv 4.8E-05 0.700 1.000 3 1997 2001
dbSNP: rs104893774
rs104893774
RHO
2 0.925 0.080 3 129530918 missense variant G/A;T snv 8.0E-06 0.020 1.000 2 2004 2006
dbSNP: rs121917849
rs121917849
TTPA
3 0.882 0.200 8 63072990 missense variant A/C snv 4.0E-06 0.020 1.000 2 2002 2002
dbSNP: rs141252097
rs141252097
PDE6A
2 0.925 0.080 5 149944370 missense variant G/A;T snv 2.4E-05; 1.7E-04 0.700 1.000 2 1999 2015
dbSNP: rs1569237206
rs1569237206
RPGR
2 0.925 0.080 X 38286615 frameshift variant T/- del 0.700 1.000 2 2000 2002
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: rs370898371
rs370898371
PDE6B ; PDE6B-AS1
1 1.000 0.080 4 656295 splice region variant A/G;T snv 3.6E-05 0.700 1.000 2 2012 2019
dbSNP: rs527236139
rs527236139
USH2A
3 0.882 0.200 1 215759735 missense variant C/A;T snv 4.0E-06; 5.6E-05 0.700 1.000 2 2014 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: rs886041233
rs886041233
RHO
1 1.000 0.080 3 129530918 missense variant GG/TT mnv 0.020 1.000 2 2004 2006
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: rs104893776
rs104893776
RHO
2 0.925 0.080 3 129532253 missense variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs104893781
rs104893781
RHO
3 0.882 0.080 3 129532636 missense variant C/T snv 0.710 1.000 1 1997 1997