Gene: PDE6B ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs370898371
rs370898371
PDE6B ; PDE6B-AS1
G 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs527236091
rs527236091
PDE6B
A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs727504075
rs727504075
PDE6B
A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs869312177
rs869312177
PDE6B
TCTGGG 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs201541131
rs201541131
PDE6B
T 0.700 GeneticVariation CLINVAR Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F. 25823529

2015
dbSNP: rs555600300
rs555600300
PDE6B
A 0.700 GeneticVariation CLINVAR NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. 26667666

2015
dbSNP: rs863223339
rs863223339
PDE6B ; PDE6B-AS1
T 0.700 CausalMutation CLINVAR Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. 26497376

2015
dbSNP: rs727504075
rs727504075
PDE6B
A 0.700 CausalMutation CLINVAR Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 25097241

2014
dbSNP: rs370898371
rs370898371
PDE6B ; PDE6B-AS1
G 0.700 GeneticVariation CLINVAR Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
dbSNP: rs555600300
rs555600300
PDE6B
A 0.700 GeneticVariation CLINVAR Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
dbSNP: rs1553812554
rs1553812554
PDE6B
C 0.700 GeneticVariation CLINVAR Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. 20591486

2010
dbSNP: rs727504075
rs727504075
PDE6B
A 0.700 CausalMutation CLINVAR Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. 7724547

1995
dbSNP: rs760766981
rs760766981
PDE6B
C 0.700 GeneticVariation CLINVAR Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. 7724547

1995
dbSNP: rs121918579
rs121918579
PDE6B ; PDE6B-AS1
T 0.700 CausalMutation CLINVAR Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. 8394174

1993
dbSNP: rs121918581
rs121918581
PDE6B
T 0.700 CausalMutation CLINVAR

dbSNP: rs1360937549
rs1360937549
PDE6B
AG 0.700 GeneticVariation CLINVAR

dbSNP: rs527236088
rs527236088
PDE6B
A 0.700 CausalMutation CLINVAR

dbSNP: rs527236089
rs527236089
PDE6B
C 0.700 CausalMutation CLINVAR

dbSNP: rs527236090
rs527236090
PDE6B ; PDE6B-AS1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs781003757
rs781003757
PDE6B
G 0.700 GeneticVariation CLINVAR

dbSNP: rs876657718
rs876657718
PDE6B
A 0.700 CausalMutation CLINVAR

dbSNP: rs970990957
rs970990957
PDE6B
T 0.700 CausalMutation CLINVAR