rs33971440

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 38.1/142

Chromosome

11

Position

5226929

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33971440
dbSNP (classic)	rs33971440
ClinGen	rs33971440
ebi	rs33971440
HLI	rs33971440
Exac	rs33971440
Gnomad	rs33971440
Varsome	rs33971440
LitVar	rs33971440
Map	rs33971440
PheGenI	rs33971440
Biobank	rs33971440
1000 genomes	rs33971440
hgdp	rs33971440
ensembl	rs33971440
geneview	rs33971440
scholar	rs33971440
google	rs33971440
pharmgkb	rs33971440
gwascentral	rs33971440
openSNP	rs33971440
23andMe	rs33971440
SNPshot	rs33971440
SNPdbe	rs33971440
MSV3d	rs33971440
GWAS Ctlg	rs33971440

GMAF

0.0004591

Max Magnitude

5.5

OMIM	141900
Desc
Variant	0346
Related	also

OMIM	141900
Desc
Variant	0347
Related	also

ClinVar
Risk	Rs33971440(A;A) rs33971440(T;T)
Alt	Rs33971440(A;A) rs33971440(T;T)
Reference	Rs33971440(G;G)
Significance	Pathogenic
Disease	beta^0^ Thalassemia Beta Thalassemia not provided
Variation	info
Gene	HBB
CLNDBN	beta^0^ Thalassemia beta Thalassemia not provided
Reversed	1
HGVS	NC_000011.9:g.5248159C>A; NC_000011.9:g.5248159C>T
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016695.27, RCV000169505.1, RCV000016694.26, RCV000020340.2, RCV000390929.1,

[PMID 1390250] The beta-thalassaemia mutations in the population of Cyprus.

[PMID 2200760] Beta-thalassemia in Turkey.

[PMID 6280057] Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.

[PMID 8602996] Beta-thalassaemia in south-western Spain: high frequency of G-->A (IVS I-1) mutation.

[PMID 6714226] Molecular characterization of seven beta-thalassemia mutations in Asian Indians.