Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62635004
rs62635004
RPGR
0.700 GeneticVariation UNIPROT C2 domains as protein-protein interaction modules in the ciliary transition zone. 24981858

2014
dbSNP: rs62635004
rs62635004
RPGR
0.700 GeneticVariation UNIPROT X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. 12657579

2003
dbSNP: rs62635004
rs62635004
RPGR
0.700 GeneticVariation UNIPROT RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. 14564670

2003
dbSNP: rs62635004
rs62635004
RPGR
0.700 GeneticVariation UNIPROT A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. 11992260

2002
dbSNP: rs62635004
rs62635004
RPGR
0.700 GeneticVariation UNIPROT Five novel RPGR mutations in families with X-linked retinitis pigmentosa. 11180598

2001
dbSNP: rs62635004
rs62635004
RPGR
0.700 GeneticVariation UNIPROT Novel mutations of the RPGR gene in RP3 families. 10737996

2000
dbSNP: rs62635004
rs62635004
RPGR
0.700 GeneticVariation UNIPROT X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. 10937588

2000
dbSNP: rs62635004
rs62635004
RPGR
0.700 GeneticVariation UNIPROT Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15. 10970770

2000
dbSNP: rs62635004
rs62635004
RPGR
0.700 GeneticVariation UNIPROT Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. 10932196

2000
dbSNP: rs62635004
rs62635004
RPGR
0.700 GeneticVariation UNIPROT Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa. 10482958

1999
dbSNP: rs62635004
rs62635004
RPGR
0.700 GeneticVariation UNIPROT X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60. 9855162

1998
dbSNP: rs62635004
rs62635004
RPGR
0.700 GeneticVariation UNIPROT Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. 9399904

1997
dbSNP: rs62635004
rs62635004
RPGR
0.700 GeneticVariation UNIPROT A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). 8673101

1996
dbSNP: rs62635004
rs62635004
RPGR
0.700 GeneticVariation UNIPROT Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. 8817343

1996