rs137853006
|
|
Retinal Dystrophies
|
A |
0.710 |
GeneticVariation
|
CLINVAR |
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.
|
18654668 |
2008 |
rs147346345
|
|
Retinal Dystrophies
|
A |
0.710 |
GeneticVariation
|
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs61749409
|
|
Retinal Dystrophies
|
A |
0.710 |
GeneticVariation
|
CLINVAR |
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
|
9973280 |
1999 |
rs1010184002
|
|
Retinal Dystrophies
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs104894927
|
|
Retinal Dystrophies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa.
|
10053026 |
1999 |
rs1052954321
|
|
Retinal Dystrophies
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
|
30967659 |
2019 |
rs1057518802
|
|
Retinal Dystrophies
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1057518939
|
|
Retinal Dystrophies
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1064793014
|
|
Retinal Dystrophies
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Genetic and clinical analysis of ABCA4-associated disease in African American patients.
|
25066811 |
2014 |
rs111733491
|
|
Retinal Dystrophies
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs112029032
|
|
Retinal Dystrophies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
|
17033958 |
2006 |
rs113624356
|
|
Retinal Dystrophies
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
|
26872967 |
2016 |
rs113624356
|
|
Retinal Dystrophies
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
|
12118255 |
2002 |
rs1189889920
|
|
Retinal Dystrophies
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1196489060
|
|
Retinal Dystrophies
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs121908180
|
|
Retinal Dystrophies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs121908282
|
|
Retinal Dystrophies
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
|
17033958 |
2006 |
rs121909398
|
|
Retinal Dystrophies
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).
|
14681825 |
2004 |
rs121918244
|
|
Retinal Dystrophies
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
|
15723066 |
2005 |
rs121918327
|
|
Retinal Dystrophies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1356104318
|
|
Retinal Dystrophies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs137852832
|
|
Retinal Dystrophies
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs137853005
|
|
Retinal Dystrophies
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
|
26872967 |
2016 |
rs137853137
|
|
Retinal Dystrophies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs137853907
|
|
Retinal Dystrophies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.
|
22025579 |
2011 |