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: 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: 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: 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: rs200311463
rs200311463
PDE6H ; LOC105369670
5 0.827 0.160 12 14978047 stop gained C/G snv 8.4E-05 1.3E-04 0.710 1.000 1 2012 2012
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: rs397515360
rs397515360
CNGB3
8 0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03 0.700 1.000 3 2000 2019
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: rs201320564
rs201320564
CNGB3
2 0.925 0.120 8 86628967 stop gained G/A snv 2.0E-05 2.1E-05 0.700 1.000 1 2019 2019
dbSNP: rs373862340
rs373862340
CNGB3
2 0.925 0.120 8 86644671 stop gained C/A snv 3.7E-05 2.8E-05 0.700 1.000 1 2017 2017
dbSNP: rs761129859
rs761129859
ATF6
2 0.925 0.120 1 161821166 splice region variant G/A;C snv 4.3E-06 0.700 1.000 1 2015 2015
dbSNP: rs761357250
rs761357250
ATF6
2 0.925 0.120 1 161819693 missense variant C/T snv 1.6E-05 5.6E-05 0.700 1.000 1 2015 2015
dbSNP: rs796065053
rs796065053
ATF6
2 0.925 0.120 1 161863292 missense variant T/A snv 0.700 1.000 1 2015 2015
dbSNP: rs797045170
rs797045170
ATF6 ; LOC102724329
2 0.925 0.120 1 161766447 splice region variant G/A;T snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs797045171
rs797045171
ATF6
2 0.925 0.120 1 161784094 frameshift variant C/- delins 0.700 1.000 1 2015 2015
dbSNP: rs797045172
rs797045172
ATF6
2 0.925 0.120 1 161853324 splice donor variant G/C snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs797045173
rs797045173
ATF6
2 0.925 0.120 1 161802157 frameshift variant -/C delins 0.700 1.000 1 2015 2015
dbSNP: rs797045174
rs797045174
ATF6
2 0.925 0.120 1 161821081 frameshift variant -/A delins 0.700 1.000 1 2015 2015
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: 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