rs34716011

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	5.5	Beta Thalassemia major; Hemoglobin beta-zero; possibly transfusion dependent
(A;G)	3	Beta Thalassemia carrier; Hemoglobin beta-zero mutation; anemia possible
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226974

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs34716011
dbSNP (classic)	rs34716011
ClinGen	rs34716011
ebi	rs34716011
HLI	rs34716011
Exac	rs34716011
Gnomad	rs34716011
Varsome	rs34716011
LitVar	rs34716011
Map	rs34716011
PheGenI	rs34716011
Biobank	rs34716011
1000 genomes	rs34716011
hgdp	rs34716011
ensembl	rs34716011
geneview	rs34716011
scholar	rs34716011
google	rs34716011
pharmgkb	rs34716011
gwascentral	rs34716011
openSNP	rs34716011
23andMe	rs34716011
SNPshot	rs34716011
SNPdbe	rs34716011
MSV3d	rs34716011
GWAS Ctlg	rs34716011

Max Magnitude

5.5

OMIM	141900
Desc
Variant	0313
Related	also

ClinVar
Risk	Rs34716011(A;A)
Alt	Rs34716011(A;A)
Reference	Rs34716011(G;G)
Significance	Untested
Disease
Variation	info
Gene	HBB
CLNDBN
Reversed	1
HGVS	NC_000011.9:g.5248204C>T
CLNSRC	GTR HBVAR
CLNACC

[PMID 1428946] Hb Shelby [alpha 2 beta 2(131)(H9)Gln----Lys]-beta zero-thalassemia [codon 15 (TGG----TGA)] identified by DNA sequencing.

[PMID 1581247] A novel beta zero-thalassaemia mutation (codon 15, TGG----TGA) is prevalent in a population of central Portugal.