rs63749819

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

11

Position

5227002

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs63749819
dbSNP (classic)	rs63749819
ClinGen	rs63749819
ebi	rs63749819
HLI	rs63749819
Exac	rs63749819
Gnomad	rs63749819
Varsome	rs63749819
LitVar	rs63749819
Map	rs63749819
PheGenI	rs63749819
Biobank	rs63749819
1000 genomes	rs63749819
hgdp	rs63749819
ensembl	rs63749819
geneview	rs63749819
scholar	rs63749819
google	rs63749819
pharmgkb	rs63749819
gwascentral	rs63749819
openSNP	rs63749819
23andMe	rs63749819
SNPshot	rs63749819
SNPdbe	rs63749819
MSV3d	rs63749819
GWAS Ctlg	rs63749819

Max Magnitude

5.5

ClinVar
Risk	Rs63749819(-;-)
Alt	Rs63749819(-;-)
Reference	Rs63749819(A;A)
Significance	Pathogenic
Disease	beta^0^ Thalassemia
Variation	info
Gene	HBB
CLNDBN	beta^0^ Thalassemia
Reversed	1
HGVS	NC_000011.9:g.5248232delT
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016674.27,

[PMID 6310991] beta-Thalassemia due to a deletion of the nucleotide which is substituted in the beta S-globin gene.

[PMID 2200762] Beta-thalassemia in Bulgaria.

[PMID 2458145] Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States.