rs193922553

Orientation

minus

Stabilized

minus

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

Make rs193922553(-;-)

Make rs193922553(-;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226691

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs193922553
dbSNP (classic)	rs193922553
ClinGen	rs193922553
ebi	rs193922553
HLI	rs193922553
Exac	rs193922553
Gnomad	rs193922553
Varsome	rs193922553
LitVar	rs193922553
Map	rs193922553
PheGenI	rs193922553
Biobank	rs193922553
1000 genomes	rs193922553
hgdp	rs193922553
ensembl	rs193922553
geneview	rs193922553
scholar	rs193922553
google	rs193922553
pharmgkb	rs193922553
gwascentral	rs193922553
openSNP	rs193922553
23andMe	rs193922553
SNPshot	rs193922553
SNPdbe	rs193922553
MSV3d	rs193922553
GWAS Ctlg	rs193922553

Max Magnitude

0

ClinVar
Risk	rs193922553(-;-)
Alt	rs193922553(-;-)
Reference	Rs193922553(A;A)
Significance	Probable-Pathogenic
Disease	Beta-thalassemia
Variation	info
Gene	HBB
CLNDBN	Beta-thalassemia, dominant inclusion body type
Reversed	1
HGVS	NC_000011.9:g.5247921delT
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029967.1,

[PMID 20532507] A novel frameshift mutation at codon 66 (HBB:c.del201A) in the beta-globin gene leads to beta-thalassemia.