Gene: PDE6B ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918581
rs121918581
PDE6B
0.800 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
dbSNP: rs121918581
rs121918581
PDE6B
0.800 GeneticVariation UNIPROT A novel homozygous Ile535Asn mutation in the rod cGMP phosphodiesterase beta-subunit gene in two brothers of a Japanese family with autosomal recessive retinitis pigmentosa. 9543643

1998
dbSNP: rs121918581
rs121918581
PDE6B
0.800 GeneticVariation UNIPROT Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa. 8956055

1996
dbSNP: rs121918581
rs121918581
PDE6B
0.800 GeneticVariation UNIPROT A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family. 8557257

1996
dbSNP: rs121918581
rs121918581
PDE6B
0.800 GeneticVariation UNIPROT Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa. 8698075

1996
dbSNP: rs121918581
rs121918581
PDE6B
0.800 GeneticVariation UNIPROT Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa. 8595886

1995
dbSNP: rs121918581
rs121918581
PDE6B
0.800 GeneticVariation UNIPROT Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. 8394174

1993
dbSNP: rs144590560
rs144590560
PDE6B
0.700 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370

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

2012
dbSNP: rs751859807
rs751859807
PDE6B
0.700 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
dbSNP: rs760766981
rs760766981
PDE6B
0.700 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
dbSNP: rs144590560
rs144590560
PDE6B
0.700 GeneticVariation UNIPROT A novel homozygous Ile535Asn mutation in the rod cGMP phosphodiesterase beta-subunit gene in two brothers of a Japanese family with autosomal recessive retinitis pigmentosa. 9543643

1998
dbSNP: rs555600300
rs555600300
PDE6B
0.700 GeneticVariation UNIPROT A novel homozygous Ile535Asn mutation in the rod cGMP phosphodiesterase beta-subunit gene in two brothers of a Japanese family with autosomal recessive retinitis pigmentosa. 9543643

1998
dbSNP: rs751859807
rs751859807
PDE6B
0.700 GeneticVariation UNIPROT A novel homozygous Ile535Asn mutation in the rod cGMP phosphodiesterase beta-subunit gene in two brothers of a Japanese family with autosomal recessive retinitis pigmentosa. 9543643

1998
dbSNP: rs760766981
rs760766981
PDE6B
0.700 GeneticVariation UNIPROT A novel homozygous Ile535Asn mutation in the rod cGMP phosphodiesterase beta-subunit gene in two brothers of a Japanese family with autosomal recessive retinitis pigmentosa. 9543643

1998
dbSNP: rs144590560
rs144590560
PDE6B
0.700 GeneticVariation UNIPROT Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa. 8956055

1996
dbSNP: rs144590560
rs144590560
PDE6B
0.700 GeneticVariation UNIPROT Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa. 8698075

1996
dbSNP: rs144590560
rs144590560
PDE6B
0.700 GeneticVariation UNIPROT A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family. 8557257

1996
dbSNP: rs555600300
rs555600300
PDE6B
0.700 GeneticVariation UNIPROT A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family. 8557257

1996
dbSNP: rs555600300
rs555600300
PDE6B
0.700 GeneticVariation UNIPROT Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa. 8698075

1996
dbSNP: rs555600300
rs555600300
PDE6B
0.700 GeneticVariation UNIPROT Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa. 8956055

1996
dbSNP: rs751859807
rs751859807
PDE6B
0.700 GeneticVariation UNIPROT A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family. 8557257

1996
dbSNP: rs751859807
rs751859807
PDE6B
0.700 GeneticVariation UNIPROT Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa. 8698075

1996
dbSNP: rs751859807
rs751859807
PDE6B
0.700 GeneticVariation UNIPROT Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa. 8956055

1996
dbSNP: rs760766981
rs760766981
PDE6B
0.700 GeneticVariation UNIPROT Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa. 8698075

1996