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rs587776789

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6.8 Retinoblastoma (predicted)
(G;G) 0 common in clinvar
(G;T) 6.8 Retinoblastoma (predicted)
Make rs587776789(T;T)
ReferenceGRCh38 38.1/142
Chromosome13
Position48349024
GeneRB1
is asnp
is mentioned by
dbSNPrs587776789
dbSNP (classic)rs587776789
ClinGenrs587776789
ebirs587776789
HLIrs587776789
Exacrs587776789
Gnomadrs587776789
Varsomers587776789
LitVarrs587776789
Maprs587776789
PheGenIrs587776789
Biobankrs587776789
1000 genomesrs587776789
hgdprs587776789
ensemblrs587776789
geneviewrs587776789
scholarrs587776789
googlers587776789
pharmgkbrs587776789
gwascentralrs587776789
openSNPrs587776789
23andMers587776789
SNPshotrs587776789
SNPdbers587776789
MSV3drs587776789
GWAS Ctlgrs587776789
Max Magnitude6.8
ClinVar
Risk rs587776789(A;A) rs587776789(T;T)
Alt rs587776789(A;A) rs587776789(T;T)
Reference Rs587776789(G;G)
Significance Pathogenic
Disease not provided Hereditary cancer-predisposing syndrome Retinoblastoma
Variation info
Gene RB1
CLNDBN not provided Hereditary cancer-predisposing syndrome Retinoblastoma
Reversed 0
HGVS NC_000013.10:g.48923160G>A; NC_000013.10:g.48923160G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000483814.1, RCV000492670.1, RCV000013969.2, RCV000415422.1, RCV000484757.1, RCV000492204.1,