rs137853294

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs137853294(C;T)

Make rs137853294(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

48459708

Gene

RB1

is a	snp
is	mentioned by
dbSNP	rs137853294
dbSNP (classic)	rs137853294
ClinGen	rs137853294
ebi	rs137853294
HLI	rs137853294
Exac	rs137853294
Gnomad	rs137853294
Varsome	rs137853294
LitVar	rs137853294
Map	rs137853294
PheGenI	rs137853294
Biobank	rs137853294
1000 genomes	rs137853294
hgdp	rs137853294
ensembl	rs137853294
geneview	rs137853294
scholar	rs137853294
google	rs137853294
pharmgkb	rs137853294
gwascentral	rs137853294
openSNP	rs137853294
23andMe	rs137853294
SNPshot	rs137853294
SNPdbe	rs137853294
MSV3d	rs137853294
GWAS Ctlg	rs137853294

Max Magnitude

0

OMIM	180200
Desc
Variant	0019
Related	also

ClinVar
Risk	rs137853294(T;T)
Alt	rs137853294(T;T)
Reference	Rs137853294(C;C)
Significance	Pathogenic
Disease	Retinoblastoma not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	RB1
CLNDBN	Retinoblastoma not provided Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.49033844C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013962.3, RCV000078635.3, RCV000492717.1,