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rs146150511

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs146150511(C;T)
Make rs146150511(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position47353508
GeneRBP3
is asnp
is mentioned by
dbSNPrs146150511
ebirs146150511
HLIrs146150511
Exacrs146150511
Varsomers146150511
Maprs146150511
PheGenIrs146150511
hapmaprs146150511
1000 genomesrs146150511
hgdprs146150511
ensemblrs146150511
gopubmedrs146150511
geneviewrs146150511
scholarrs146150511
googlers146150511
pharmgkbrs146150511
gwascentralrs146150511
openSNPrs146150511
23andMers146150511
23andMe allrs146150511
SNP Nexus

SNPshotrs146150511
SNPdbers146150511
MSV3drs146150511
GWAS Ctlgrs146150511
Max Magnitude0
ClinVar
Risk rs146150511(T;T)
Alt rs146150511(T;T)
Reference rs146150511(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 66
Variation info
Gene RBP3
CLNDBN Retinitis pigmentosa 66
Reversed 0
HGVS NC_000010.10:g.48385854C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000043517.19,


[PMID 19074801OA-icon.png] A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa.