Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201162411
rs201162411
A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019

dbSNP: rs201162411
rs201162411
A 0.700 CausalMutation CLINVAR Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa. 28056120

2017

dbSNP: rs189234741
rs189234741
T 0.700 GeneticVariation CLINVAR Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies. 25943428

2015

dbSNP: rs189234741
rs189234741
T 0.700 GeneticVariation CLINVAR The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice. 25999674

2015

dbSNP: rs189234741
rs189234741
T 0.700 CausalMutation CLINVAR Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa. 21987686

2011

dbSNP: rs189234741
rs189234741
T 0.700 GeneticVariation CLINVAR Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa. 21987686

2011

dbSNP: rs201162411
rs201162411
A 0.700 GeneticVariation CLINVAR Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa. 21147909

2011

dbSNP: rs201162411
rs201162411
A 0.700 CausalMutation CLINVAR Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa. 21147909

2011

dbSNP: rs1352458826
rs1352458826
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555488069
rs1555488069
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555488573
rs1555488573
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555493707
rs1555493707
T 0.700 GeneticVariation CLINVAR

dbSNP: rs527236060
rs527236060
G 0.700 GeneticVariation CLINVAR

dbSNP: rs527236061
rs527236061
GT 0.700 GeneticVariation CLINVAR

dbSNP: rs750620302
rs750620302
A 0.700 GeneticVariation CLINVAR

dbSNP: rs756806434
rs756806434
GCCAC 0.700 GeneticVariation CLINVAR

dbSNP: rs760373259
rs760373259
T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853394
rs878853394
A 0.700 GeneticVariation CLINVAR