Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933990
rs28933990
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C1405854
Disease:
Retinitis punctata albescens (disorder)
0.710 GeneticVariation BEFREE Bothnia dystrophy is a variant of recessive retinitis punctata albescens (RPA) and is caused by a homozygous R234W mutation in the RLBP1 gene. 22171637 2012
dbSNP: rs137853290
rs137853290
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C1405854
Disease:
Retinitis punctata albescens (disorder)
0.710 GeneticVariation BEFREE The data suggest that the R150Q mutation in RLBP1 may result in RPA with slow progression. 11453974 2001
dbSNP: rs137853290
rs137853290
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C1405854
Disease:
Retinitis punctata albescens (disorder)
T 0.710 CausalMutation CLINVAR
dbSNP: rs28933990
rs28933990
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C1405854
Disease:
Retinitis punctata albescens (disorder)
A 0.710 CausalMutation CLINVAR
dbSNP: rs137853291
rs137853291
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C1405854
Disease:
Retinitis punctata albescens (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs1567124404
rs1567124404
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C1405854
Disease:
Retinitis punctata albescens (disorder)
G 0.700 CausalMutation CLINVAR
dbSNP: rs786205626
rs786205626
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
CUI: C1405854
Disease:
Retinitis punctata albescens (disorder)
T 0.700 CausalMutation CLINVAR