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: rs1010663867
rs1010663867
CNGA3
2 0.925 0.120 2 98396537 missense variant T/G snv 0.010 1.000 1 2010 2010
dbSNP: rs1023522305
rs1023522305
PDE6C
1 1.000 0.120 10 93622073 splice donor variant G/A;C snv 0.700 0
dbSNP: rs1028838062
rs1028838062
PDE6C
1 1.000 0.120 10 93640166 stop gained C/T snv 4.4E-05 0.700 0
dbSNP: rs104893613
rs104893613
CNGA3
2 0.925 0.120 2 98396017 missense variant C/T snv 9.9E-05 2.1E-05 0.700 0
dbSNP: rs104893614
rs104893614
CNGA3
2 0.925 0.120 2 98396018 missense variant G/A snv 6.4E-05 9.8E-05 0.700 0
dbSNP: rs104893617
rs104893617
CNGA3
2 0.925 0.120 2 98396811 missense variant C/A;T snv 1.5E-04; 4.4E-05 0.700 0
dbSNP: rs104893619
rs104893619
CNGA3
3 0.882 0.120 2 98396755 missense variant G/A snv 6.8E-05 3.5E-05 0.710 1.000 1 2010 2010
dbSNP: rs104893620
rs104893620
CNGA3
6 0.851 0.120 2 98395999 missense variant C/T snv 9.5E-05 7.0E-05 0.710 1.000 1 2011 2011
dbSNP: rs104893621
rs104893621
CNGA3
3 0.882 0.120 2 98396476 missense variant C/T snv 9.6E-05 6.3E-05 0.710 1.000 9 2001 2016
dbSNP: rs104893769
rs104893769
RHO
6 0.807 0.160 3 129528783 missense variant C/T snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1051925
rs1051925
PDE6C
2 0.925 0.120 10 93640514 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs116448158
rs116448158
CNGA3
2 0.925 0.120 2 98396788 missense variant G/A snv 1.4E-03 1.2E-03 0.010 1.000 1 2017 2017
dbSNP: rs1194219748
rs1194219748
CNGA3
2 0.925 0.120 2 98370010 missense variant C/G snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121918344
rs121918344
CNGB3
2 0.925 0.120 8 86632768 missense variant G/A snv 0.700 0
dbSNP: rs121918537
rs121918537
PDE6C
3 0.882 0.160 10 93612810 missense variant C/A;T snv 1.6E-05 0.700 0
dbSNP: rs1377555853
rs1377555853
CNGA3
2 0.925 0.120 2 98396296 missense variant G/A snv 4.0E-06 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs138958917
rs138958917
CNGA3
2 0.925 0.120 2 98391964 missense variant C/G;T snv 3.6E-05; 7.6E-05 0.700 0
dbSNP: rs139207764
rs139207764
CNGB3
2 0.925 0.120 8 86670970 missense variant G/A snv 5.2E-05 4.9E-05 0.700 0
dbSNP: rs141386891
rs141386891
CNGA3
3 0.882 0.120 2 98396449 missense variant C/T snv 4.0E-04 4.1E-04 0.700 1.000 5 2001 2017
dbSNP: rs147415641
rs147415641
CNGA3
3 0.882 0.120 2 98395852 missense variant G/A snv 1.4E-03 8.6E-04 0.710 1.000 2 2008 2010
dbSNP: rs147876778
rs147876778
CNGB3
6 0.807 0.120 8 86632864 missense variant C/T snv 4.6E-03 1.8E-03 0.700 0
dbSNP: rs150115958
rs150115958
CABP4
3 0.882 0.160 11 67457677 stop gained C/A;T snv 5.2E-05 0.700 1.000 1 2019 2019
dbSNP: rs1553227755
rs1553227755
ATF6
1 1.000 0.120 1 161781910 splice region variant -/G delins 0.700 0
dbSNP: rs1553447991
rs1553447991
CNGA3
1 1.000 0.120 2 98369938 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1553450734
rs1553450734
CNGA3
2 0.925 0.120 2 98396387 missense variant T/C snv 0.700 0