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: rs17821448
rs17821448
CNGB1
1 1.000 0.080 16 57963028 synonymous variant G/A snv 0.43 0.37 0.010 < 0.001 1 2013 2013
dbSNP: rs3112831
rs3112831
ABCA4
2 1.000 0.080 1 94078678 missense variant T/C;G snv 0.26 0.26 0.010 1.000 1 2017 2017
dbSNP: rs444772
rs444772
RP1
1 1.000 0.080 8 54626497 missense variant G/A snv 0.28 0.25 0.010 1.000 1 2012 2012
dbSNP: rs111991705
rs111991705
PHF3 ; EYS
1 1.000 0.080 6 63721609 missense variant C/T snv 5.1E-03 7.0E-03 0.010 1.000 1 2019 2019
dbSNP: rs137853903
rs137853903
GUCA1B
1 1.000 0.080 6 42188686 missense variant C/T snv 1.3E-03 5.1E-03 0.010 1.000 1 2004 2004
dbSNP: rs186571865
rs186571865
RP1
1 1.000 0.080 8 54622111 splice region variant T/C snv 5.0E-03 4.5E-03 0.700 0
dbSNP: rs112822256
rs112822256
EYS
1 1.000 0.080 6 65405253 missense variant C/T snv 1.8E-03 3.7E-03 0.700 0
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: rs41292677
rs41292677
ABCA4
3 0.882 0.080 1 94001992 missense variant C/G snv 3.0E-03 3.0E-03 0.700 1.000 1 2019 2019
dbSNP: rs149079952
rs149079952
RHO
1 1.000 0.080 3 129528885 missense variant G/C snv 8.0E-04 2.9E-03 0.010 1.000 1 2017 2017
dbSNP: rs201358563
rs201358563
NRL
1 1.000 0.080 14 24081247 missense variant G/A snv 2.8E-04 2.4E-03 0.010 < 0.001 1 2007 2007
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
22 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 1.000 2 2002 2019
dbSNP: rs397515360
rs397515360
CNGB3
8 0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03 0.700 1.000 1 2019 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: rs138470711
rs138470711
ATN1
1 1.000 0.080 12 6938982 missense variant G/A snv 2.0E-03 1.5E-03 0.010 1.000 1 2009 2009
dbSNP: rs1800552
rs1800552
ABCA4
4 0.851 0.080 1 94010821 missense variant C/T snv 1.6E-03 1.5E-03 0.700 1.000 1 2019 2019
dbSNP: rs140630401
rs140630401
IQCB1
1 1.000 0.080 3 121772683 missense variant C/T snv 1.1E-03 1.4E-03 0.700 1.000 1 2019 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: rs201162411
rs201162411
CNGB1
1 1.000 0.080 16 57901371 missense variant T/A snv 1.1E-03 1.1E-03 0.700 1.000 3 2011 2019
dbSNP: rs181255269
rs181255269
CDH23
2 0.925 0.200 10 71694233 missense variant C/T snv 2.2E-03 8.8E-04 0.700 1.000 1 2019 2019
dbSNP: rs35818432
rs35818432
USH2A
2 0.925 0.200 1 216292352 missense variant G/C snv 1.3E-03 7.8E-04 0.700 0
dbSNP: rs528919874
rs528919874
PHF3 ; EYS
2 0.925 0.080 6 63721376 frameshift variant CTGCATGT/- delins 7.5E-04 6.7E-04 0.700 1.000 1 2019 2019
dbSNP: rs549625604
rs549625604
BBS10
13 0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 0.700 1.000 1 2006 2006
dbSNP: rs150466624
rs150466624
RCVRN
1 1.000 0.080 17 9898100 missense variant C/T snv 6.9E-04 5.7E-04 0.010 1.000 1 1997 1997
dbSNP: rs201499815
rs201499815
PHYH
1 1.000 0.080 10 13288355 splice region variant C/A snv 1.2E-03 5.7E-04 0.700 1.000 1 2004 2004