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rs387906521

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906521(A;A)
Make rs387906521(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position48303715
GeneLINC00441, RB1
is asnp
is mentioned by
dbSNPrs387906521
ClinGenrs387906521
ebirs387906521
HLIrs387906521
Exacrs387906521
Varsomers387906521
Maprs387906521
PheGenIrs387906521
hapmaprs387906521
1000 genomesrs387906521
hgdprs387906521
ensemblrs387906521
gopubmedrs387906521
geneviewrs387906521
scholarrs387906521
googlers387906521
pharmgkbrs387906521
gwascentralrs387906521
openSNPrs387906521
23andMers387906521
23andMe allrs387906521
SNP Nexus

SNPshotrs387906521
SNPdbers387906521
MSV3drs387906521
GWAS Ctlgrs387906521
Max Magnitude0
[PMID 27569544] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
ClinVar
Risk rs387906521(A;A)
Alt rs387906521(A;A)
Reference Rs387906521(G;G)
Significance Pathogenic
Disease Retinoblastoma
Variation info
Gene LINC00441 RB1
CLNDBN Retinoblastoma
Reversed 0
HGVS NC_000013.10:g.48877851G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013961.2,