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rs398123333

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GAATGAGTATGAA;GAATGAGTATGAA) 0 common in clinvar
Make rs398123333(CAC;CAC)
Make rs398123333(CAC;GAATGAGTATGAA)
ReferenceGRCh38 38.1/141
Chromosome13
Position48459794
GeneRB1
is asnp
is mentioned by
dbSNPrs398123333
ebirs398123333
HLIrs398123333
Exacrs398123333
Varsomers398123333
Maprs398123333
PheGenIrs398123333
hapmaprs398123333
1000 genomesrs398123333
hgdprs398123333
ensemblrs398123333
gopubmedrs398123333
geneviewrs398123333
scholarrs398123333
googlers398123333
pharmgkbrs398123333
gwascentralrs398123333
openSNPrs398123333
23andMers398123333
23andMe allrs398123333
SNP Nexus

SNPshotrs398123333
SNPdbers398123333
MSV3drs398123333
GWAS Ctlgrs398123333
Max Magnitude0
ClinVar
Risk rs398123333(CAC;CAC)
Alt rs398123333(CAC;CAC)
Reference rs398123333(GAATGAGTATGAA;GAATGAGTATGAA)
Significance Pathogenic
Disease not provided Retinoblastoma
Variation info
Gene RB1
CLNDBN not provided Retinoblastoma
Reversed 0
HGVS NC_000013.10:g.49033930_49033942delGAATGAGTATGAAinsCAC
CLNSRC ClinVar
CLNACC RCV000078636.3, RCV000176032.1,