rs146150511

Orientation

minus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs146150511(C;T)

Make rs146150511(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

47353508

Gene

RBP3

is a	snp
is	mentioned by
dbSNP	rs146150511
dbSNP (classic)	rs146150511
ClinGen	rs146150511
ebi	rs146150511
HLI	rs146150511
Exac	rs146150511
Gnomad	rs146150511
Varsome	rs146150511
LitVar	rs146150511
Map	rs146150511
PheGenI	rs146150511
Biobank	rs146150511
1000 genomes	rs146150511
hgdp	rs146150511
ensembl	rs146150511
geneview	rs146150511
scholar	rs146150511
google	rs146150511
pharmgkb	rs146150511
gwascentral	rs146150511
openSNP	rs146150511
23andMe	rs146150511
SNPshot	rs146150511
SNPdbe	rs146150511
MSV3d	rs146150511
GWAS Ctlg	rs146150511

Max Magnitude

0

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 UniProtKB (protein)
CLNACC	RCV000043517.19,

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