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rs398123331

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123331(C;T)
Make rs398123331(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position48380062
GeneRB1
is asnp
is mentioned by
dbSNPrs398123331
dbSNP (classic)rs398123331
ClinGenrs398123331
ebirs398123331
HLIrs398123331
Exacrs398123331
Gnomadrs398123331
Varsomers398123331
LitVarrs398123331
Maprs398123331
PheGenIrs398123331
Biobankrs398123331
1000 genomesrs398123331
hgdprs398123331
ensemblrs398123331
geneviewrs398123331
scholarrs398123331
googlers398123331
pharmgkbrs398123331
gwascentralrs398123331
openSNPrs398123331
23andMers398123331
SNPshotrs398123331
SNPdbers398123331
MSV3drs398123331
GWAS Ctlgrs398123331
Max Magnitude0
ClinVar
Risk rs398123331(T;T)
Alt rs398123331(T;T)
Reference Rs398123331(C;C)
Significance Pathogenic
Disease not provided Retinoblastoma Hereditary cancer-predisposing syndrome
Variation info
Gene RB1
CLNDBN not provided Retinoblastoma Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.48954198C>T
CLNSRC HGMD
CLNACC RCV000078633.3, RCV000114730.2, RCV000492734.1,