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: rs104893791
rs104893791
RHO
4 0.851 0.080 3 129530962 missense variant G/A;C snv 4.8E-05; 1.6E-05 0.040 1.000 4 2009 2016
dbSNP: rs1393259836
rs1393259836
ADRA1A
2 0.925 0.080 8 26748670 frameshift variant TT/- del 0.020 1.000 2 2006 2010
dbSNP: rs200691042
rs200691042
FAM161A
5 0.851 0.080 2 61839695 stop gained T/A snv 2.8E-04 2.9E-04 0.020 1.000 2 2015 2015
dbSNP: rs28933990
rs28933990
RLBP1
4 0.851 0.080 15 89210794 missense variant G/A;C snv 8.6E-05; 4.8E-06 0.020 1.000 2 2001 2008
dbSNP: rs749137757
rs749137757
EDNRA
2 0.925 0.080 4 147540465 missense variant A/G snv 4.1E-06 0.020 1.000 2 2006 2010
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
22 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.010 1.000 1 2012 2012
dbSNP: rs121909398
rs121909398
CERKL
7 0.827 0.080 2 181558617 stop gained G/A;C snv 3.5E-04; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121912631
rs121912631
NR2E3
4 0.851 0.080 15 71811530 missense variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1349879153
rs1349879153
PHF3 ; EYS
1 1.000 0.080 6 63721795 missense variant C/A snv 2.7E-05 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs137853291
rs137853291
RLBP1
4 0.851 0.080 15 89211750 missense variant A/T snv 4.4E-05 2.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs139250920
rs139250920
ABCA4
1 1.000 0.080 1 94055212 missense variant G/A snv 1.7E-04 2.8E-04 0.010 1.000 1 2004 2004
dbSNP: rs1436425494
rs1436425494
CNGA1 ; NIPAL1 ; LOC101927157
1 1.000 0.080 4 47949886 stop gained G/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs149672683
rs149672683
SP4
2 0.925 0.080 7 21430082 missense variant A/G snv 1.8E-02 6.5E-03 0.010 1.000 1 2007 2007
dbSNP: rs150726175
rs150726175
NMNAT1
11 0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 0.010 1.000 1 2014 2014
dbSNP: rs2276717
rs2276717
SLC7A14 ; SLC7A14-AS1
4 0.851 0.080 3 170483441 missense variant C/T snv 1.7E-03 5.9E-04 0.010 1.000 1 2019 2019
dbSNP: rs375040930
rs375040930
CRB1
2 0.925 0.080 1 197427616 missense variant G/A;T snv 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs527236068
rs527236068
EYS
2 0.925 0.080 6 64081870 missense variant C/G;T snv 4.0E-05 0.010 1.000 1 2016 2016
dbSNP: rs527236088
rs527236088
PDE6B
3 0.882 0.080 4 660603 missense variant T/A snv 4.0E-06 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs553840761
rs553840761
PHF3 ; EYS
1 1.000 0.080 6 63720846 missense variant T/C snv 1.5E-04 9.8E-04 0.010 1.000 1 2016 2016
dbSNP: rs587777602
rs587777602
ABHD12
3 0.882 0.160 20 25302260 missense variant G/C snv 0.010 1.000 1 2014 2014
dbSNP: rs61750200
rs61750200
ABCA4
8 0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs62636511
rs62636511
TULP1
2 0.925 0.080 6 35500010 missense variant T/C snv 2.0E-05 0.010 1.000 1 2011 2011
dbSNP: rs750180668
rs750180668
CLCC1 ; AKNAD1
1 1.000 0.080 1 108950363 missense variant G/T snv 4.8E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs751094345
rs751094345
EPHA3
1 1.000 0.080 3 89210154 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs755233297
rs755233297
SDS
2 0.925 0.080 12 113397367 missense variant C/G;T snv 8.0E-06 0.010 1.000 1 2006 2006