rs80356820

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226757

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs80356820
dbSNP (classic)	rs80356820
ClinGen	rs80356820
ebi	rs80356820
HLI	rs80356820
Exac	rs80356820
Gnomad	rs80356820
Varsome	rs80356820
LitVar	rs80356820
Map	rs80356820
PheGenI	rs80356820
Biobank	rs80356820
1000 genomes	rs80356820
hgdp	rs80356820
ensembl	rs80356820
geneview	rs80356820
scholar	rs80356820
google	rs80356820
pharmgkb	rs80356820
gwascentral	rs80356820
openSNP	rs80356820
23andMe	rs80356820
SNPshot	rs80356820
SNPdbe	rs80356820
MSV3d	rs80356820
GWAS Ctlg	rs80356820

Max Magnitude

5.5

ClinVar
Risk	Rs80356820(-;-)
Alt	Rs80356820(-;-)
Reference	Rs80356820(C;C)
Significance	Pathogenic
Disease	beta^0^ Thalassemia Beta Thalassemia
Variation	info
Gene	HBB
CLNDBN	beta^0^ Thalassemia beta Thalassemia
Reversed	1
HGVS	NC_000011.9:g.5247987delG
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016671.26, RCV000169145.2,

[PMID 1986379] Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan.