Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554671407
rs1554671407
TOPORS
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		C 0.700 CausalMutation CLINVAR Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa. 18509552

2008