Have questions? Visit https://www.reddit.com/r/SNPedia

rs137853296

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 6.8 Retinoblastoma (predicted)
(T;T) 0 common in clinvar


Make rs137853296(C;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position48463758
GeneRB1
is asnp
is mentioned by
dbSNPrs137853296
dbSNP (classic)rs137853296
ClinGenrs137853296
ebirs137853296
HLIrs137853296
Exacrs137853296
Gnomadrs137853296
Varsomers137853296
LitVarrs137853296
Maprs137853296
PheGenIrs137853296
Biobankrs137853296
1000 genomesrs137853296
hgdprs137853296
ensemblrs137853296
geneviewrs137853296
scholarrs137853296
googlers137853296
pharmgkbrs137853296
gwascentralrs137853296
openSNPrs137853296
23andMers137853296
SNPshotrs137853296
SNPdbers137853296
MSV3drs137853296
GWAS Ctlgrs137853296
Max Magnitude6.8
OMIM180200
Desc
Variant0024
Relatedalso
ClinVar
Risk rs137853296(C;C)
Alt rs137853296(C;C)
Reference Rs137853296(T;T)
Significance Pathogenic
Disease Retinoblastoma Hereditary cancer-predisposing syndrome
Variation info
Gene RB1
CLNDBN Retinoblastoma Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.49037894T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013968.2, RCV000492516.1,