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rs137853292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.8 Retinoblastoma (predicted)
Make rs137853292(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position48452997
GeneRB1
is asnp
is mentioned by
dbSNPrs137853292
dbSNP (classic)rs137853292
ClinGenrs137853292
ebirs137853292
HLIrs137853292
Exacrs137853292
Gnomadrs137853292
Varsomers137853292
LitVarrs137853292
Maprs137853292
PheGenIrs137853292
Biobankrs137853292
1000 genomesrs137853292
hgdprs137853292
ensemblrs137853292
geneviewrs137853292
scholarrs137853292
googlers137853292
pharmgkbrs137853292
gwascentralrs137853292
openSNPrs137853292
23andMers137853292
SNPshotrs137853292
SNPdbers137853292
MSV3drs137853292
GWAS Ctlgrs137853292
Max Magnitude6.8
OMIM180200
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137853292(T;T)
Alt rs137853292(T;T)
Reference Rs137853292(C;C)
Significance Pathogenic
Disease Retinoblastoma
Variation info
Gene RB1
CLNDBN Retinoblastoma
Reversed 0
HGVS NC_000013.10:g.49027133C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013947.2,