Gene: TOPORS ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs527236116
rs527236116
TOPORS
G 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs1554671407
rs1554671407
TOPORS
C 0.700 CausalMutation CLINVAR Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa. 18509552

2008
dbSNP: rs527236116
rs527236116
TOPORS
G 0.700 CausalMutation CLINVAR Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. 17924349

2007