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rs121913304

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.8 Retinoblastoma (predicted)
Make rs121913304(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position48381414
GeneRB1
is asnp
is mentioned by
dbSNPrs121913304
dbSNP (classic)rs121913304
ClinGenrs121913304
ebirs121913304
HLIrs121913304
Exacrs121913304
Gnomadrs121913304
Varsomers121913304
LitVarrs121913304
Maprs121913304
PheGenIrs121913304
Biobankrs121913304
1000 genomesrs121913304
hgdprs121913304
ensemblrs121913304
geneviewrs121913304
scholarrs121913304
googlers121913304
pharmgkbrs121913304
gwascentralrs121913304
openSNPrs121913304
23andMers121913304
SNPshotrs121913304
SNPdbers121913304
MSV3drs121913304
GWAS Ctlgrs121913304
Max Magnitude6.8
OMIM180200
Desc
Variant0022
Relatedalso
ClinVar
Risk rs121913304(T;T)
Alt rs121913304(T;T)
Reference Rs121913304(C;C)
Significance Pathogenic
Disease Retinoblastoma Neoplasm Hereditary cancer-predisposing syndrome
Variation info
Gene RB1
CLNDBN Retinoblastoma, trilateral Retinoblastoma Neoplasm Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.48955550C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013966.2, RCV000114734.1, RCV000430238.1, RCV000492084.1,