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rs587778839

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587778839(C;C)
Make rs587778839(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position48476845
GeneRB1
is asnp
is mentioned by
dbSNPrs587778839
dbSNP (classic)rs587778839
ClinGenrs587778839
ebirs587778839
HLIrs587778839
Exacrs587778839
Gnomadrs587778839
Varsomers587778839
LitVarrs587778839
Maprs587778839
PheGenIrs587778839
Biobankrs587778839
1000 genomesrs587778839
hgdprs587778839
ensemblrs587778839
geneviewrs587778839
scholarrs587778839
googlers587778839
pharmgkbrs587778839
gwascentralrs587778839
openSNPrs587778839
23andMers587778839
SNPshotrs587778839
SNPdbers587778839
MSV3drs587778839
GWAS Ctlgrs587778839
Max Magnitude0
ClinVar
Risk rs587778839(C;C)
Alt rs587778839(C;C)
Reference Rs587778839(T;T)
Significance Pathogenic
Disease Retinoblastoma
Variation info
Gene RB1
CLNDBN Retinoblastoma
Reversed 0
HGVS NC_000013.10:g.49050981T>C
CLNSRC
CLNACC RCV000114699.1,