Gene: CRB1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853137
rs137853137
CRB1
T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs145282040
rs145282040
CRB1
T 0.700 GeneticVariation CLINVAR Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. 20591486

2010
dbSNP: rs1553263218
rs1553263218
CRB1
TG 0.700 CausalMutation CLINVAR An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy. 18055820

2007
dbSNP: rs62645748
rs62645748
CRB1
A 0.700 GeneticVariation CLINVAR Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). 10508521

1999
dbSNP: rs1553249226
rs1553249226
CRB1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs267598278
rs267598278
CRB1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs773233587
rs773233587
CRB1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs878853364
rs878853364
CRB1
CCTTA 0.700 GeneticVariation CLINVAR

dbSNP: rs878853366
rs878853366
CRB1
CA 0.700 GeneticVariation CLINVAR

dbSNP: rs878853369
rs878853369
CRB1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853370
rs878853370
CRB1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs878853371
rs878853371
CRB1
T 0.700 GeneticVariation CLINVAR