Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs749546665
rs749546665
SNRNP200
0.700 GeneticVariation UNIPROT Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa. 24319334

2013
dbSNP: rs749546665
rs749546665
SNRNP200
0.700 GeneticVariation UNIPROT Contribution of SNRNP200 sequence variations to retinitis pigmentosa. 23887765

2013
dbSNP: rs749546665
rs749546665
SNRNP200
0.700 GeneticVariation UNIPROT Structural basis for functional cooperation between tandem helicase cassettes in Brr2-mediated remodeling of the spliceosome. 23045696

2012
dbSNP: rs749546665
rs749546665
SNRNP200
0.700 GeneticVariation UNIPROT A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family. 23029027

2012
dbSNP: rs749546665
rs749546665
SNRNP200
0.700 GeneticVariation UNIPROT Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa. 21618346

2011
dbSNP: rs749546665
rs749546665
SNRNP200
0.700 GeneticVariation UNIPROT Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family. 19710410

2010
dbSNP: rs749546665
rs749546665
SNRNP200
0.700 GeneticVariation UNIPROT Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs. 19878916

2009
dbSNP: rs749546665
rs749546665
SNRNP200
0.700 GeneticVariation UNIPROT The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP. 16723661

2006