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rs764754259

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6.8 Retinoblastoma (predicted)
(C;G) 6.8 Retinoblastoma (predicted)
(G;G) 0 common in clinvar


Make rs764754259(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome13
Position48465369
GeneRB1
is asnp
is mentioned by
dbSNPrs764754259
dbSNP (classic)rs764754259
ClinGenrs764754259
ebirs764754259
HLIrs764754259
Exacrs764754259
Gnomadrs764754259
Varsomers764754259
LitVarrs764754259
Maprs764754259
PheGenIrs764754259
Biobankrs764754259
1000 genomesrs764754259
hgdprs764754259
ensemblrs764754259
geneviewrs764754259
scholarrs764754259
googlers764754259
pharmgkbrs764754259
gwascentralrs764754259
openSNPrs764754259
23andMers764754259
SNPshotrs764754259
SNPdbers764754259
MSV3drs764754259
GWAS Ctlgrs764754259
Max Magnitude6.8
ClinVar
Risk rs764754259(A;A) rs764754259(C;C)
Alt rs764754259(A;A) rs764754259(C;C)
Reference Rs764754259(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Retinoblastoma
Variation info
Gene RB1
CLNDBN Hereditary cancer-predisposing syndrome Retinoblastoma
Reversed 0
HGVS NC_000013.10:g.49039505G>A; NC_000013.10:g.49039505G>C
CLNSRC
CLNACC RCV000492539.1, RCV000407067.1, RCV000492739.1,