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: rs397515384
rs397515384
GNAT2
2 0.925 0.160 1 109608607 intron variant C/T snv 0.700 0
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: 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: rs200707391
rs200707391
CC2D2A
3 0.882 0.160 4 15557452 missense variant G/A;C;T snv 1.7E-04; 4.1E-06; 1.2E-05 0.010 1.000 1 2019 2019
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: rs1553227755
rs1553227755
ATF6
1 1.000 0.120 1 161781910 splice region variant -/G delins 0.700 0
dbSNP: rs797045171
rs797045171
ATF6
2 0.925 0.120 1 161784094 frameshift variant C/- delins 0.700 1.000 1 2015 2015
dbSNP: rs765383904
rs765383904
ATF6
1 1.000 0.120 1 161791469 frameshift variant -/T delins 0.700 0
dbSNP: rs797045173
rs797045173
ATF6
2 0.925 0.120 1 161802157 frameshift variant -/C delins 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: rs797045174
rs797045174
ATF6
2 0.925 0.120 1 161821081 frameshift variant -/A delins 0.700 1.000 1 2015 2015
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: 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: rs796065053
rs796065053
ATF6
2 0.925 0.120 1 161863292 missense variant T/A snv 0.700 1.000 1 2015 2015
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: rs372006750
rs372006750
CNGB3
2 0.925 0.120 8 86625982 splice donor variant C/A;T snv 2.0E-05 0.700 0
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: rs121918344
rs121918344
CNGB3
2 0.925 0.120 8 86632768 missense variant G/A snv 0.700 0
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: 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: 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: rs775796581
rs775796581
CNGB3
5 0.851 0.120 8 86666951 frameshift variant AGTCTGGG/- delins 5.2E-05 7.0E-05 0.700 0
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 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: rs786204498
rs786204498
CNGB3
2 0.925 0.120 8 86743516 stop gained G/A snv 0.700 0