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rs121913301

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.8 Retinoblastoma (predicted)
Make rs121913301(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position48368549
GeneRB1
is asnp
is mentioned by
dbSNPrs121913301
dbSNP (classic)rs121913301
ClinGenrs121913301
ebirs121913301
HLIrs121913301
Exacrs121913301
Gnomadrs121913301
Varsomers121913301
LitVarrs121913301
Maprs121913301
PheGenIrs121913301
Biobankrs121913301
1000 genomesrs121913301
hgdprs121913301
ensemblrs121913301
geneviewrs121913301
scholarrs121913301
googlers121913301
pharmgkbrs121913301
gwascentralrs121913301
openSNPrs121913301
23andMers121913301
SNPshotrs121913301
SNPdbers121913301
MSV3drs121913301
GWAS Ctlgrs121913301
Max Magnitude6.8
OMIM180200
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121913301(T;T)
Alt rs121913301(T;T)
Reference Rs121913301(C;C)
Significance Other
Disease Retinoblastoma Hereditary cancer-predisposing syndrome
Variation info
Gene RB1
CLNDBN Retinoblastoma Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.48942685C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013951.4, RCV000492492.1,