rs387906521

plus

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

Make rs387906521(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

48303715

Gene	LINC00441, RB1

is a	snp
is	mentioned by
dbSNP	rs387906521
dbSNP (classic)	rs387906521
ClinGen	rs387906521
ebi	rs387906521
HLI	rs387906521
Exac	rs387906521
Gnomad	rs387906521
Varsome	rs387906521
LitVar	rs387906521
Map	rs387906521
PheGenI	rs387906521
Biobank	rs387906521
1000 genomes	rs387906521
hgdp	rs387906521
ensembl	rs387906521
geneview	rs387906521
scholar	rs387906521
google	rs387906521
pharmgkb	rs387906521
gwascentral	rs387906521
openSNP	rs387906521
23andMe	rs387906521
SNPshot	rs387906521
SNPdbe	rs387906521
MSV3d	rs387906521
GWAS Ctlg	rs387906521

Max Magnitude

6.8

[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 Hereditary cancer-predisposing syndrome
Variation	info
Gene	LINC00441 RB1
CLNDBN	Retinoblastoma Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.48877851G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013961.2, RCV000492684.1,