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rs137853293

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.8 Retinoblastoma (predicted)
Make rs137853293(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position48465238
GeneRB1
is asnp
is mentioned by
dbSNPrs137853293
dbSNP (classic)rs137853293
ClinGenrs137853293
ebirs137853293
HLIrs137853293
Exacrs137853293
Gnomadrs137853293
Varsomers137853293
LitVarrs137853293
Maprs137853293
PheGenIrs137853293
Biobankrs137853293
1000 genomesrs137853293
hgdprs137853293
ensemblrs137853293
geneviewrs137853293
scholarrs137853293
googlers137853293
pharmgkbrs137853293
gwascentralrs137853293
openSNPrs137853293
23andMers137853293
SNPshotrs137853293
SNPdbers137853293
MSV3drs137853293
GWAS Ctlgrs137853293
Max Magnitude6.8
OMIM180200
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137853293(T;T)
Alt rs137853293(T;T)
Reference Rs137853293(C;C)
Significance Pathogenic
Disease Retinoblastoma not provided Hereditary cancer-predisposing syndrome
Variation info
Gene RB1
CLNDBN Retinoblastoma not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.49039374C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000013948.3, RCV000078637.3, RCV000492108.1,