rs398123333

Orientation

plus

Stabilized

plus

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

Make rs398123333(CAC;CAC)

Make rs398123333(CAC;GAATGAGTATGAA)

Reference

GRCh38 38.1/141

Chromosome

13

Position

48459794

Gene

RB1

is a	snp
is	mentioned by
dbSNP	rs398123333
dbSNP (classic)	rs398123333
ClinGen	rs398123333
ebi	rs398123333
HLI	rs398123333
Exac	rs398123333
Gnomad	rs398123333
Varsome	rs398123333
LitVar	rs398123333
Map	rs398123333
PheGenI	rs398123333
Biobank	rs398123333
1000 genomes	rs398123333
hgdp	rs398123333
ensembl	rs398123333
geneview	rs398123333
scholar	rs398123333
google	rs398123333
pharmgkb	rs398123333
gwascentral	rs398123333
openSNP	rs398123333
23andMe	rs398123333
SNPshot	rs398123333
SNPdbe	rs398123333
MSV3d	rs398123333
GWAS Ctlg	rs398123333

Max Magnitude

0

ClinVar
Risk	rs398123333(CAC;CAC)
Alt	rs398123333(CAC;CAC)
Reference	Rs398123333(GAATGAGTATGAA;GAATGAGTATGAA)
Significance	Pathogenic
Disease	not provided Retinoblastoma
Variation	info
Gene	RB1
CLNDBN	not provided Retinoblastoma
Reversed	0
HGVS	NC_000013.10:g.49033930_49033942delGAATGAGTATGAAinsCAC
CLNSRC	ClinVar
CLNACC	RCV000078636.3, RCV000176032.1,