Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs146705250
rs146705250
ERG
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: rs200691042
rs200691042
FAM161A
A 0.700 CausalMutation CLINVAR

dbSNP: rs1234399841
rs1234399841
FAM161A
0.010 GeneticVariation BEFREE Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c.199_201del [p.Gln67del] and c.810+1G>T) in an unrelated person with cone-rod dystrophy. 25018096

2014
dbSNP: rs28940314
rs28940314
GPHN ; RDH12
T 0.700 GeneticVariation CLINVAR

dbSNP: rs104893968
rs104893968
GUCA1A
0.020 GeneticVariation BEFREE Subjects with a Pro50Leu mutation demonstrated marked variability in expressivity from minimal abnormalities of macular function to cone-rod dystrophy. 11146732

2001
dbSNP: rs104893968
rs104893968
GUCA1A
0.020 GeneticVariation BEFREE In this paper, experimentally derived observations are reported that help in explaining why a proline-->leucine mutation at position 50 of human GCAP1 results in cone-rod dystrophy in a family carrying this mutation. 11136713

2001
dbSNP: rs121434631
rs121434631
GUCA1A
0.010 GeneticVariation BEFREE RNAi-mediated gene suppression in a GCAP1(L151F) cone-rod dystrophy mouse model. 23472098

2013
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: 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: 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: rs2723341
rs2723341
NR2E3
C 0.700 CausalMutation CLINVAR

dbSNP: rs750740765
rs750740765
NR2E3
T 0.700 CausalMutation CLINVAR

dbSNP: rs544616523
rs544616523
PANK2
C 0.700 CausalMutation CLINVAR

dbSNP: rs76216585
rs76216585
POC1B
0.020 GeneticVariation BEFREE Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c.199_201del [p.Gln67del] and c.810+1G>T) in an unrelated person with cone-rod dystrophy. 25018096

2014
dbSNP: rs76216585
rs76216585
POC1B
0.020 GeneticVariation BEFREE A recent study describes homozygosity for p.Arg106ProPOC1B in a family with nonsyndromic cone-rod dystrophy. 25044745

2014
dbSNP: rs886037880
rs886037880
PROM1
T 0.700 CausalMutation CLINVAR

dbSNP: rs886037881
rs886037881
PROM1
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918567
rs121918567
PRPH2
T 0.700 GeneticVariation CLINVAR Genes and mutations in autosomal dominant cone and cone-rod dystrophy. 22183351

2012
dbSNP: rs121918567
rs121918567
PRPH2
T 0.700 GeneticVariation CLINVAR Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene. 14557183

2003