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: rs117522010
rs117522010
CNGA3
2 0.925 0.120 2 98396575 missense variant G/A;T snv 1.6E-05 0.700 0
dbSNP: rs1227761587
rs1227761587
CNGA3
1 1.000 0.120 2 98396191 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs146195955
rs146195955
CNGA3
2 0.925 0.120 2 98396137 missense variant G/C snv 7.6E-05 3.2E-04 0.700 0
dbSNP: rs147415641
rs147415641
CNGA3
3 0.882 0.120 2 98395852 missense variant G/A snv 1.4E-03 8.6E-04 0.700 0
dbSNP: rs1558811557
rs1558811557
CNGA3
5 0.851 0.120 2 98377710 frameshift variant -/TCAGTGCTGCAGCCGGGGATCG delins 0.700 0
dbSNP: rs1558820471
rs1558820471
CNGA3
1 1.000 0.120 2 98396480 frameshift variant TTA/AG delins 0.700 0
dbSNP: rs767083685
rs767083685
CNGA3
1 1.000 0.120 2 98396477 missense variant G/A snv 4.4E-05 7.0E-06 0.700 0
dbSNP: rs908111816
rs908111816
CNGA3
1 1.000 0.120 2 98396699 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs916035276
rs916035276
CNGA3
1 1.000 0.120 2 98396371 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs943314733
rs943314733
CNGA3
1 1.000 0.120 2 98395957 missense variant T/G snv 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 0.710 1.000 1 2019 2019
dbSNP: rs147118493
rs147118493
CNGA3
2 0.925 0.160 2 98370077 splice donor variant G/A snv 2.6E-04; 8.0E-06 1.4E-04 0.700 1.000 1 2001 2001
dbSNP: rs777509481
rs777509481
CNGA3
2 0.925 0.120 2 98370042 stop gained C/T snv 3.6E-05 2.8E-05 0.700 1.000 6 2004 2016
dbSNP: rs104893612
rs104893612
CNGA3
1 1.000 0.120 2 98389696 missense variant C/T snv 1.6E-05 7.0E-06 0.800 1.000 8 1998 2015
dbSNP: rs104893613
rs104893613
CNGA3
2 0.925 0.120 2 98396017 missense variant C/T snv 9.9E-05 2.1E-05 0.800 1.000 8 1998 2015
dbSNP: rs104893616
rs104893616
CNGA3
1 1.000 0.120 2 98396042 missense variant C/G snv 0.800 1.000 8 1998 2015
dbSNP: rs104893617
rs104893617
CNGA3
2 0.925 0.120 2 98396811 missense variant C/A;T snv 1.5E-04; 4.4E-05 0.800 1.000 8 1998 2015
dbSNP: rs104893619
rs104893619
CNGA3
3 0.882 0.120 2 98396755 missense variant G/A snv 6.8E-05 3.5E-05 0.800 1.000 8 1998 2015
dbSNP: rs104893620
rs104893620
CNGA3
6 0.851 0.120 2 98395999 missense variant C/T snv 9.5E-05 7.0E-05 0.800 1.000 8 1998 2015
dbSNP: rs104893621
rs104893621
CNGA3
3 0.882 0.120 2 98396476 missense variant C/T snv 9.6E-05 6.3E-05 0.800 1.000 8 1998 2015
dbSNP: rs104893615
rs104893615
CNGA3
1 1.000 0.120 2 98396839 missense variant G/A snv 1.4E-04 1.2E-04 0.700 1.000 8 1998 2015
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 1.000 8 1998 2015
dbSNP: rs1464167194
rs1464167194
CNGA3
1 1.000 0.120 2 98396284 missense variant C/T snv 8.0E-06 0.700 1.000 8 1998 2015
dbSNP: rs1553450734
rs1553450734
CNGA3
2 0.925 0.120 2 98396387 missense variant T/C snv 0.700 1.000 8 1998 2015
dbSNP: rs201747279
rs201747279
CNGA3
1 1.000 0.120 2 98396864 missense variant C/T snv 1.6E-04 1.9E-04 0.700 1.000 8 1998 2015