Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434621
rs121434621
OPN1LW
0.820 GeneticVariation BEFREE The diagnosis was genetically verified with the identification of one single red-green OPN1LW/MW hybrid gene harboring a point mutation c.607C>G, p.Cys203Arg that associates with BCM and in addition a completely biased X-inactivation in DNA isolated from full blood and buccal mucosa. 22998501

2013
dbSNP: rs121434621
rs121434621
OPN1LW
0.820 GeneticVariation BEFREE In contrast, subjects with the C203R missense mutation presented with congenital blue cone monochromacy, with retinal lamination defects being restricted to the ONL+HFL and the degree of residual cone structure (8% of normal) being consistent with that expected for the S-cone submosaic. 23139274

2012
dbSNP: rs121434621
rs121434621
OPN1LW
0.820 GeneticVariation UNIPROT

dbSNP: rs121434621
rs121434621
OPN1LW
C 0.820 CausalMutation CLINVAR

dbSNP: rs104894914
rs104894914
OPN1MW
0.810 GeneticVariation BEFREE In contrast, subjects with the C203R missense mutation presented with congenital blue cone monochromacy, with retinal lamination defects being restricted to the ONL+HFL and the degree of residual cone structure (8% of normal) being consistent with that expected for the S-cone submosaic. 23139274

2012
dbSNP: rs104894914
rs104894914
OPN1MW
0.810 GeneticVariation UNIPROT Gene conversion between red and defective green opsin gene in blue cone monochromacy. 8666378

1995
dbSNP: rs104894914
rs104894914
OPN1MW
C 0.810 CausalMutation CLINVAR

dbSNP: rs267606927
rs267606927
OPN1MW
0.700 GeneticVariation UNIPROT X-linked cone dystrophy caused by mutation of the red and green cone opsins. 20579627

2010
dbSNP: rs782797093
rs782797093
OPN1LW
0.700 GeneticVariation UNIPROT Gene conversion between red and defective green opsin gene in blue cone monochromacy. 8666378

1995
dbSNP: rs782797093
rs782797093
OPN1LW
0.700 GeneticVariation UNIPROT Genetic heterogeneity among blue-cone monochromats. 8213841

1993
dbSNP: rs104894912
rs104894912
OPN1LW
T 0.700 CausalMutation CLINVAR

dbSNP: rs200311463
rs200311463
PDE6H ; LOC105369670
G 0.700 CausalMutation CLINVAR

dbSNP: rs146403122
rs146403122
NR2E3
0.010 GeneticVariation BEFREE Genetic analysis identified the presence of novel double heterozygous of c.361G>A; p.E121K in NR2E3, a gene responsible for enhanced S-cone syndrome (ESCS; OMIM #268100) and c.244A>G; p.K82E in OPN1LW, a gene responsible for blue cone monochromacy (BCM; OMIM#303700). 30614359

2019
dbSNP: rs781915220
rs781915220
OPN1LW
0.010 GeneticVariation BEFREE Genetic analysis identified the presence of novel double heterozygous of c.361G>A; p.E121K in NR2E3, a gene responsible for enhanced S-cone syndrome (ESCS; OMIM #268100) and c.244A>G; p.K82E in OPN1LW, a gene responsible for blue cone monochromacy (BCM; OMIM#303700). 30614359

2019
dbSNP: rs147876778
rs147876778
CNGB3
0.010 GeneticVariation BEFREE However, a small number of patients carrying the CNGB3/c.1208G>A;p.R403Q mutation present with a variable retinal phenotype ranging from complete and incomplete achromatopsia to moderate cone dysfunction or progressive cone dystrophy. 30418171

2018