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: rs139207764
rs139207764
CNGB3
2 0.925 0.120 8 86670970 missense variant G/A snv 5.2E-05 4.9E-05 0.800 1.000 10 2000 2017
dbSNP: rs121918344
rs121918344
CNGB3
2 0.925 0.120 8 86632768 missense variant G/A snv 0.800 1.000 7 2000 2017
dbSNP: rs1554612145
rs1554612145
CNGB3
1 1.000 0.120 8 86647865 missense variant G/A snv 0.800 1.000 7 2000 2017
dbSNP: rs146688972
rs146688972
CNGB3
1 1.000 0.120 8 86726550 missense variant C/T snv 4.5E-04 5.6E-04 0.700 1.000 6 2000 2005
dbSNP: rs1554604849
rs1554604849
CNGB3
1 1.000 0.120 8 86579251 missense variant G/A snv 0.700 1.000 6 2000 2005
dbSNP: rs369138501
rs369138501
CNGB3
1 1.000 0.120 8 86670995 missense variant T/C snv 4.0E-06 0.700 1.000 6 2000 2005
dbSNP: rs397515360
rs397515360
CNGB3
8 0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03 0.700 1.000 6 2003 2017
dbSNP: rs749413012
rs749413012
CNGB3
1 1.000 0.120 8 86604202 missense variant C/A;T snv 6.4E-05; 4.0E-06 0.700 1.000 6 2000 2005
dbSNP: rs765884344
rs765884344
CNGB3
1 1.000 0.120 8 86626024 missense variant C/A snv 1.6E-05 0.700 1.000 6 2000 2005
dbSNP: rs773372519
rs773372519
CNGB3
2 0.925 0.120 8 86644689 splice region variant A/C;G snv 1.3E-05; 8.9E-06 0.700 1.000 6 2004 2017
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 5 2000 2017
dbSNP: rs775796581
rs775796581
CNGB3
5 0.851 0.120 8 86666951 frameshift variant AGTCTGGG/- delins 5.2E-05 7.0E-05 0.700 1.000 5 2000 2017
dbSNP: rs267606739
rs267606739
CNGB3
1 1.000 0.120 8 86668055 stop gained G/A;C;T snv 2.8E-05; 4.0E-06 0.700 1.000 4 2000 2017
dbSNP: rs786204492
rs786204492
CNGB3
1 1.000 0.120 8 86671046 stop gained G/A snv 4.0E-06 0.700 1.000 4 2004 2017
dbSNP: rs372006750
rs372006750
CNGB3
2 0.925 0.120 8 86625982 splice donor variant C/A;T snv 2.0E-05 0.700 1.000 3 2005 2017
dbSNP: rs786204498
rs786204498
CNGB3
2 0.925 0.120 8 86743516 stop gained G/A snv 0.700 1.000 3 2005 2017
dbSNP: rs1057516504
rs1057516504
CNGB3
1 1.000 0.120 8 86611672 splice acceptor variant C/T snv 0.700 1.000 2 2014 2017
dbSNP: rs1057516878
rs1057516878
CNGB3
1 1.000 0.120 8 86629033 frameshift variant G/- delins 0.700 1.000 2 2015 2017
dbSNP: rs1554607548
rs1554607548
CNGB3
1 1.000 0.120 8 86604099 frameshift variant -/C delins 0.700 1.000 2 2013 2016
dbSNP: rs201794629
rs201794629
CNGB3
2 0.925 0.120 8 86667134 splice acceptor variant C/G snv 4.0E-05 1.4E-05 0.700 1.000 2 2005 2017
dbSNP: rs764742792
rs764742792
CNGB3
1 1.000 0.120 8 86643866 stop gained G/A;T snv 2.0E-05; 4.0E-06 0.700 1.000 2 2005 2017
dbSNP: rs768345097
rs768345097
CNGB3
1 1.000 0.120 8 86667131 stop gained G/A snv 2.0E-05 2.1E-05 0.700 1.000 2 2005 2017
dbSNP: rs786204762
rs786204762
CNGB3
1 1.000 0.120 8 86643810 stop gained C/T snv 0.700 1.000 2 2005 2017
dbSNP: rs1052078370
rs1052078370
CNGB3
1 1.000 0.120 8 86739658 stop gained G/A;C snv 4.2E-06; 4.2E-06 0.700 1.000 1 2017 2017
dbSNP: rs1057516825
rs1057516825
CNGB3
1 1.000 0.120 8 86628918 splice donor variant C/T snv 0.700 1.000 1 2017 2017