Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514603
rs397514603
CHM
0.810 GeneticVariation BEFREE In fact, we also identified a novel REP1 missense variant (c.1520A>G; p.H507R) associated to CHM. 21905166

2011
dbSNP: rs397514603
rs397514603
CHM
0.810 GeneticVariation UNIPROT Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase. 21905166

2011
dbSNP: rs397514603
rs397514603
CHM
0.810 GeneticVariation UNIPROT The functional effect of pathogenic mutations in Rab escort protein 1. 19427510

2009
dbSNP: rs397514603
rs397514603
CHM
0.810 GeneticVariation UNIPROT Missense mutation in the choroideremia gene. 7951216

1994
dbSNP: rs397514603
rs397514603
CHM
C 0.810 CausalMutation CLINVAR