Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1024983534
rs1024983534
TERT
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: rs104893793
rs104893793
RHO
T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
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: rs104894671
rs104894671
CRX
0.010 GeneticVariation BEFREE Two point mutations of Crx, R41W and E80A, that cause cone-rod dystrophy in humans and lie within the homeodomain but outside the NLS did not disrupt the nuclear localization of Crx protein, but a R90W mutation of Crx that causes human Leber congenital amaurosis (LCA) and resides within the NLS resulted in the fusion protein localized in both nuclei and cytoplasm in majority (51% to 69%) of the transfected cells. 10967037

2000
dbSNP: rs104894672
rs104894672
CRX
0.010 GeneticVariation BEFREE A heterozygous Arg41Trp mutation in the CRX gene can produce cone-rod dystrophy in Japanese patients. 12819982

2003
dbSNP: rs104894673
rs104894673
CRX
0.010 GeneticVariation BEFREE R90W mice carry a substitution mutation in the CRX homeodomain, Arg90Trp, which is associated with dominant mild late-onset CoRD and recessive LCA. 24516401

2014
dbSNP: rs1057517694
rs1057517694
CEP78
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057517695
rs1057517695
CEP78
C 0.700 CausalMutation CLINVAR

dbSNP: rs1060503013
rs1060503013
TERT
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: rs121434631
rs121434631
GUCA1A
0.010 GeneticVariation BEFREE RNAi-mediated gene suppression in a GCAP1(L151F) cone-rod dystrophy mouse model. 23472098

2013
dbSNP: rs121909398
rs121909398
CERKL
A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
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
dbSNP: rs121918567
rs121918567
PRPH2
T 0.700 GeneticVariation CLINVAR Role of the second intradiscal loop of peripherin/rds in homo and hetero associations. 15779916

2005
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: rs137853041
rs137853041
ADAM9
T 0.700 CausalMutation CLINVAR

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: rs147118493
rs147118493
CNGA3
A 0.700 CausalMutation CLINVAR

dbSNP: rs150115958
rs150115958
CABP4
T 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs1557110499
rs1557110499
CACNA1F
C 0.700 CausalMutation CLINVAR

dbSNP: rs1762111
rs1762111
ABCA4
G 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs1800553
rs1800553
ABCA4
0.010 GeneticVariation BEFREE Homozygosity for a novel complex allele G1961E/L857P causes a childhood-onset cone-rod dystrophy rather than the young-adult-onset macular dystrophy that is associated with G1961E alone. 31318848

2019
dbSNP: rs200691042
rs200691042
FAM161A
A 0.700 CausalMutation CLINVAR

dbSNP: rs201471607
rs201471607
ABCA4
C 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019