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: rs121434621
rs121434621
OPN1LW
3 0.882 0.120 X 154154602 missense variant T/C snv 0.820 1.000 2 2012 2013
dbSNP: rs104894914
rs104894914
OPN1MW
4 0.851 0.120 X 154191716 missense variant T/C snv 0.810 1.000 2 1995 2012
dbSNP: rs782797093
rs782797093
OPN1LW
1 1.000 0.120 X 154156469 missense variant C/T snv 5.5E-06 0.700 1.000 2 1993 1995
dbSNP: rs267606927
rs267606927
OPN1MW
2 0.925 0.120 X 154190173 missense variant T/C snv 0.700 1.000 1 2010 2010
dbSNP: rs104894912
rs104894912
OPN1LW
1 1.000 0.120 X 154154734 stop gained C/T snv 0.700 0
dbSNP: rs200311463
rs200311463
PDE6H ; LOC105369670
5 0.827 0.160 12 14978047 stop gained C/G snv 8.4E-05 1.3E-04 0.700 0
dbSNP: rs146403122
rs146403122
NR2E3
2 0.925 0.160 15 71811966 missense variant G/A snv 4.3E-03 1.8E-03 0.010 1.000 1 2019 2019
dbSNP: rs147876778
rs147876778
CNGB3
6 0.807 0.120 8 86632864 missense variant C/T snv 4.6E-03 1.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs781915220
rs781915220
OPN1LW
2 0.925 0.160 X 154150787 missense variant A/G snv 5.5E-06 0.010 1.000 1 2019 2019