Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77775126
rs77775126
RP1
0.700 GeneticVariation UNIPROT RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation. 22052604

2012
dbSNP: rs77775126
rs77775126
RP1
0.700 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370

2012
dbSNP: rs77775126
rs77775126
RP1
0.700 GeneticVariation UNIPROT Differential pattern of RP1 mutations in retinitis pigmentosa. 20664799

2010
dbSNP: rs77775126
rs77775126
RP1
0.700 GeneticVariation UNIPROT Molecular characterization of retinitis pigmentosa in Saudi Arabia. 19956407

2009
dbSNP: rs77775126
rs77775126
RP1
0.700 GeneticVariation UNIPROT A novel missense RP1 mutation in retinitis pigmentosa. 15933747

2006
dbSNP: rs77775126
rs77775126
RP1
0.700 GeneticVariation UNIPROT Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa. 15863674

2005
dbSNP: rs77775126
rs77775126
RP1
0.700 GeneticVariation UNIPROT RP1 protein truncating mutations predominate at the RP1 adRP locus. 11095597

2000
dbSNP: rs77775126
rs77775126
RP1
0.700 GeneticVariation UNIPROT Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. 10484783

1999
dbSNP: rs77775126
rs77775126
RP1
0.700 GeneticVariation UNIPROT Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. 10391211

1999