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rs1060503079

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060503079(A;A)
Make rs1060503079(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position48377030
GeneRB1
is asnp
is mentioned by
dbSNPrs1060503079
dbSNP (classic)rs1060503079
ClinGenrs1060503079
ebirs1060503079
HLIrs1060503079
Exacrs1060503079
Gnomadrs1060503079
Varsomers1060503079
LitVarrs1060503079
Maprs1060503079
PheGenIrs1060503079
Biobankrs1060503079
1000 genomesrs1060503079
hgdprs1060503079
ensemblrs1060503079
geneviewrs1060503079
scholarrs1060503079
googlers1060503079
pharmgkbrs1060503079
gwascentralrs1060503079
openSNPrs1060503079
23andMers1060503079
SNPshotrs1060503079
SNPdbers1060503079
MSV3drs1060503079
GWAS Ctlgrs1060503079
Max Magnitude0
ClinVar
Risk rs1060503079(A;A)
Alt rs1060503079(A;A)
Reference Rs1060503079(C;C)
Significance Pathogenic
Disease Retinoblastoma Hereditary cancer-predisposing syndrome
Variation info
Gene RB1
CLNDBN Retinoblastoma Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.48951166C>A
CLNSRC
CLNACC RCV000471628.1, RCV000492335.1,