rs201162411
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs201162411
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa.
|
28056120 |
2017 |
rs189234741
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.
|
25999674 |
2015 |
rs189234741
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.
|
25943428 |
2015 |
rs189234741
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa.
|
21987686 |
2011 |
rs189234741
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa.
|
21987686 |
2011 |
rs201162411
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa.
|
21147909 |
2011 |
rs201162411
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa.
|
21147909 |
2011 |
rs1352458826
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555488069
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555488573
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555493707
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs527236060
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs527236061
|
|
GT |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs750620302
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs756806434
|
|
GCCAC |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs760373259
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs878853394
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs13336595
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two polymorphisms in exon 5, p.His100Arg and p.Gly109Gly, and a c.534+20A>G change in the intronic region flanking the 3' end of exon 8 were also found not to be associated with RP.
|
23201897 |
2013 |
rs17821448
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two polymorphisms in exon 5, p.His100Arg and p.Gly109Gly, and a c.534+20A>G change in the intronic region flanking the 3' end of exon 8 were also found not to be associated with RP.
|
23201897 |
2013 |
rs8055343
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.Arg86Gln mutation actually appears to be a polymorphism common in ethnic West Africans and not associated with RP.
|
23201897 |
2013 |