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

dbSNP: rs776256380
rs776256380
CHM
0.710 GeneticVariation BEFREE Using Quantitative reverse transcription PCR (RT-qPCR), we show that CHM mRNA expression in blood from nonsense mutation CHM patients is 2.8-fold lower than controls, and varies widely amongst patients, with 40% variation between those carrying the same UGA mutation [c.715 C>T; p.(R239*)</span>]. 30689859

2019
dbSNP: rs886041179
rs886041179
CHM
0.710 GeneticVariation BEFREE A nonsense mutation (c.C799T:p.R267X) of the CHM gene on the X chromosome of the proband (IV:7) and another 5 males with choroideremia were detected, while 3 female carriers with no symptoms were also identified. 28098911

2017
dbSNP: rs776256380
rs776256380
CHM
A 0.710 CausalMutation CLINVAR

dbSNP: rs886041179
rs886041179
CHM
A 0.710 CausalMutation CLINVAR

dbSNP: rs786204761
rs786204761
CHM
T 0.700 GeneticVariation CLINVAR Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. 16936131

2006
dbSNP: rs786204761
rs786204761
CHM
T 0.700 GeneticVariation CLINVAR Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. 12827496

2003
dbSNP: rs786204761
rs786204761
CHM
T 0.700 GeneticVariation CLINVAR Mutational analysis of patients with the diagnosis of choroideremia. 12203991

2002
dbSNP: rs786204761
rs786204761
CHM
T 0.700 GeneticVariation CLINVAR REP-1 gene mutations in Japanese patients with choroideremia. 10447648

1999
dbSNP: rs386833676
rs386833676
CHM
TA 0.700 CausalMutation CLINVAR Aberrant splicing of the CHM gene is a significant cause of choroideremia. 1302003

1992
dbSNP: rs1057516265
rs1057516265
CHM
C 0.700 GeneticVariation CLINVAR

dbSNP: rs132630263
rs132630263
CHM
TC 0.700 CausalMutation CLINVAR

dbSNP: rs132630264
rs132630264
CHM
T 0.700 CausalMutation CLINVAR

dbSNP: rs132630265
rs132630265
CHM
A 0.700 CausalMutation CLINVAR

dbSNP: rs132630266
rs132630266
CHM
A 0.700 CausalMutation CLINVAR

dbSNP: rs132630267
rs132630267
CHM
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555958073
rs1555958073
CHM
G 0.700 CausalMutation CLINVAR

dbSNP: rs1556307713
rs1556307713
CHM
C 0.700 CausalMutation CLINVAR

dbSNP: rs527236048
rs527236048
CHM
A 0.700 CausalMutation CLINVAR

dbSNP: rs587776746
rs587776746
CHM
G 0.700 CausalMutation CLINVAR