Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2723341
rs2723341
NR2E3
C 0.700 CausalMutation CLINVAR

dbSNP: rs281865377
rs281865377
ABCA4
TG 0.700 CausalMutation CLINVAR

dbSNP: rs281865404
rs281865404
ABCA4
0.010 GeneticVariation BEFREE We found a new pathologic ATP-binding cassette transporter (ABCA4) splice-site mutation, c.3523-2A>T and the previously reported c.5327C>T (p.P1776L) missense mutation in the arCRD patients. 17893657

2007
dbSNP: rs28933695
rs28933695
GUCY2D
0.020 GeneticVariation BEFREE A missense mutation (E837D) was identified in affected members of the CORD6 family, as well as a second missense mutation (R838C) in three other families with dominant cone-rod dystrophy. 9618177

1998
dbSNP: rs28933695
rs28933695
GUCY2D
0.020 GeneticVariation BEFREE Two point mutations, E786D and R787C, in ROS-GC1 have been connected with cone-rod dystrophy (CORD6), with only one type of point mutation occurring in each family. 10529237

1999
dbSNP: rs28940314
rs28940314
GPHN ; RDH12
T 0.700 GeneticVariation CLINVAR

dbSNP: rs397515360
rs397515360
CNGB3
A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs397517994
rs397517994
USH2A
A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs398123044
rs398123044
RAB28
A 0.700 CausalMutation CLINVAR

dbSNP: rs483353055
rs483353055
USH2A ; LOC105372918
T 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs544616523
rs544616523
PANK2
C 0.700 CausalMutation CLINVAR

dbSNP: rs61748436
rs61748436
CRX
0.010 GeneticVariation BEFREE The Arg41Gln was associated with a late-onset, slowly progressing mild form of cone-rod dystrophy with cone loss but preserved rod and cone sensitivity until later in life. 10916183

2000
dbSNP: rs61748459
rs61748459
CRX
0.010 GeneticVariation BEFREE As an example, we discover an unannotated Tf_Otx Pfam domain on the cone rod homeobox protein, which suggests a possible mechanism for how the V242M mutation on this protein causes cone-rod dystrophy. 12668763

2003
dbSNP: rs61750172
rs61750172
GUCY2D
0.050 GeneticVariation BEFREE We suggest that the gain-of-function effects of R838C on RetGC-1 stimulated by GCAP-1, which are dominant in vitro and may cause an abnormal increase in cGMP synthesis in dark-adapted photoreceptors, may be the cause of the cone-rod degeneration. 10430891

1999
dbSNP: rs61750172
rs61750172
GUCY2D
0.050 GeneticVariation BEFREE Phenotype of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1. 17041576

2007
dbSNP: rs61750172
rs61750172
GUCY2D
0.050 GeneticVariation BEFREE A missense mutation (E837D) was identified in affected members of the CORD6 family, as well as a second missense mutation (R838C) in three other families with dominant cone-rod dystrophy. 9618177

1998
dbSNP: rs61750172
rs61750172
GUCY2D
0.050 GeneticVariation BEFREE Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients. 15175914

2004
dbSNP: rs61750172
rs61750172
GUCY2D
0.050 GeneticVariation BEFREE Two point mutations, E786D and R787C, in ROS-GC1 have been connected with cone-rod dystrophy (CORD6), with only one type of point mutation occurring in each family. 10529237

1999
dbSNP: rs61750173
rs61750173
GUCY2D
0.010 GeneticVariation BEFREE Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients. 15175914

2004
dbSNP: rs61750174
rs61750174
GUCY2D
0.010 GeneticVariation BEFREE A heterozygous, triple mutation -E786D, R787C, T788M- in ROS-GC1 has been connected with autosomal cone-rod dystrophy in a British family. 11027131

2000
dbSNP: rs61755815
rs61755815
PRPH2
0.010 GeneticVariation BEFREE Four affected members of two Japanese families with autosomal dominant cone-rod dystrophy associated with transversion mutations in codon 244 (Asn244His) and codon (Tyr184Ser) of the peripherin/RDS gene. 8540854

1996
dbSNP: rs62625014
rs62625014
CNGA1 ; NIPAL1 ; LOC101927157
A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs62645926
rs62645926
PRPH2
0.010 GeneticVariation BEFREE Four affected members of two Japanese families with autosomal dominant cone-rod dystrophy associated with transversion mutations in codon 244 (Asn244His) and codon (Tyr184Ser) of the peripherin/RDS gene. 8540854

1996
dbSNP: rs62645932
rs62645932
PRPH2
0.010 GeneticVariation BEFREE Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene. 8912967

1996
dbSNP: rs750740765
rs750740765
NR2E3
T 0.700 CausalMutation CLINVAR