Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033258
rs111033258
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
C 0.700 GeneticVariation CLINVAR USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. 12080385

2002

dbSNP: rs111033267
rs111033267
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
T 0.700 CausalMutation CLINVAR USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. 12080385

2002