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: rs1057516571
rs1057516571
CNGB3
1 1.000 0.120 8 86579126 frameshift variant C/- delins 0.700 0
dbSNP: rs1057516782
rs1057516782
CNGB3
1 1.000 0.120 8 86739702 frameshift variant -/T delins 0.700 0
dbSNP: rs1057516791
rs1057516791
CNGB3
1 1.000 0.120 8 86671025 frameshift variant T/- delins 4.0E-06 0.700 0
dbSNP: rs1057516866
rs1057516866
CNGB3
1 1.000 0.120 8 86632812 frameshift variant A/- delins 0.700 0
dbSNP: rs1057517052
rs1057517052
CNGB3
1 1.000 0.120 8 86668095 frameshift variant C/- delins 0.700 0
dbSNP: rs1057517053
rs1057517053
CNGB3
1 1.000 0.120 8 86668103 frameshift variant CCTG/- delins 0.700 0
dbSNP: rs1057517167
rs1057517167
CNGB3
1 1.000 0.120 8 86632895 splice acceptor variant T/A snv 0.700 0
dbSNP: rs1057517388
rs1057517388
CNGB3
1 1.000 0.120 8 86578865 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1057517434
rs1057517434
CNGB3
1 1.000 0.120 8 86726648 frameshift variant AG/- delins 0.700 0
dbSNP: rs1057517454
rs1057517454
CNGB3
1 1.000 0.120 8 86579104 splice donor variant A/G snv 0.700 0
dbSNP: rs114305748
rs114305748
CNGB3
1 1.000 0.120 8 86668067 missense variant C/G;T snv 2.4E-05; 4.6E-03 0.700 0
dbSNP: rs1554604775
rs1554604775
CNGB3
1 1.000 0.120 8 86578784 stop gained C/A snv 0.700 0
dbSNP: rs1554609943
rs1554609943
CNGB3
1 1.000 0.120 8 86625981 splice donor variant G/C snv 0.700 0
dbSNP: rs1554609978
rs1554609978
CNGB3
1 1.000 0.120 8 86626082 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1554614402
rs1554614402
CNGB3
1 1.000 0.120 8 86670990 frameshift variant CTT/A delins 0.700 0
dbSNP: rs16916632
rs16916632
CNGB3
1 1.000 0.120 8 86668054 missense variant C/T snv 1.5E-02 5.0E-02 0.700 0
dbSNP: rs192448853
rs192448853
CNGB3
1 1.000 0.120 8 86578706 stop gained G/A;C snv 4.6E-04; 4.0E-06 0.700 0
dbSNP: rs200805087
rs200805087
CNGB3
2 1.000 0.120 8 86579224 stop gained G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs376711003
rs376711003
CNGB3
1 1.000 0.120 8 86743617 stop gained G/A;T snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs745557293
rs745557293
CNGB3
1 1.000 0.120 8 86578855 frameshift variant A/- delins 8.0E-06 2.1E-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 0.800 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