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rs3092891

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs3092891(C;T)
Make rs3092891(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position48379594
GeneRB1
is asnp
is mentioned by
dbSNPrs3092891
ClinGenrs3092891
ebirs3092891
HLIrs3092891
Exacrs3092891
Varsomers3092891
Maprs3092891
PheGenIrs3092891
hapmaprs3092891
1000 genomesrs3092891
hgdprs3092891
ensemblrs3092891
gopubmedrs3092891
geneviewrs3092891
scholarrs3092891
googlers3092891
pharmgkbrs3092891
gwascentralrs3092891
openSNPrs3092891
23andMers3092891
23andMe allrs3092891
SNP Nexus

SNPshotrs3092891
SNPdbers3092891
MSV3drs3092891
GWAS Ctlgrs3092891
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM180200
DescRETINOBLASTOMA
Variant0003
Relatedalso


ClinVar
Risk rs3092891(T;T)
Alt rs3092891(T;T)
Reference Rs3092891(C;C)
Significance Pathogenic
Disease Retinoblastoma
Variation info
Gene RB1
CLNDBN Retinoblastoma
Reversed 0
HGVS NC_000013.10:g.48953730C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013946.2,



[PMID 18852891OA-icon.png] Distribution and effects of nonsense polymorphisms in human genes.