Condition: Cone-Rod Dystrophies
rs1762111
in
ABCA4
gene and
Cone-Rod Dystrophies
PMID 30718709
2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
rs150115958
in
CABP4
gene and
Cone-Rod Dystrophies
PMID 30718709
2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
rs886042153
in
CEP290
gene and
Cone-Rod Dystrophies
PMID 30718709
2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
rs121909398
in
CERKL
gene and
Cone-Rod Dystrophies
PMID 30718709
2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
rs62625014
in
CNGA1;NIPAL1;LOC101927157
gene and
Cone-Rod Dystrophies
PMID 30718709
2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
rs397515360
in
CNGB3
gene and
Cone-Rod Dystrophies
PMID 30718709
2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
rs121918567
in
PRPH2
gene and
Cone-Rod Dystrophies
PMID 14557183
2003 Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene.
PMID 22183351
2012 Genes and mutations in autosomal dominant cone and cone-rod dystrophy.
PMID 15779916
2005 Role of the second intradiscal loop of peripherin/rds in homo and hetero associations.
rs104893793
in
RHO
gene and
Cone-Rod Dystrophies
PMID 30718709
2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
rs397517994
in
USH2A
gene and
Cone-Rod Dystrophies
PMID 30718709
2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
rs483353055
in
USH2A;LOC105372918
gene and
Cone-Rod Dystrophies
PMID 30718709
2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.