rs33985472

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	3	Beta Thalassemia carrier; Hemoglobin beta-plus mutation
(G;G)	4.5	Beta Thalassemia intermedia likely; Hemoglobin beta-plus; variable clinical symptoms

Reference

GRCh38 38.1/141

Chromosome

11

Position

5225485

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33985472
dbSNP (classic)	rs33985472
ClinGen	rs33985472
ebi	rs33985472
HLI	rs33985472
Exac	rs33985472
Gnomad	rs33985472
Varsome	rs33985472
LitVar	rs33985472
Map	rs33985472
PheGenI	rs33985472
Biobank	rs33985472
1000 genomes	rs33985472
hgdp	rs33985472
ensembl	rs33985472
geneview	rs33985472
scholar	rs33985472
google	rs33985472
pharmgkb	rs33985472
gwascentral	rs33985472
openSNP	rs33985472
23andMe	rs33985472
SNPshot	rs33985472
SNPdbe	rs33985472
MSV3d	rs33985472
GWAS Ctlg	rs33985472

Max Magnitude

4.5

OMIM	141900
Desc
Variant	0383
Related	also

ClinVar
Risk	Rs33985472(G;G)
Alt	Rs33985472(G;G)
Reference	Rs33985472(A;A)
Significance	Pathogenic
Disease	Beta-plus-thalassemia Beta Thalassemia
Variation	info
Gene	HBB
CLNDBN	Beta-plus-thalassemia beta Thalassemia
Reversed	1
HGVS	NC_000011.9:g.5246715T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000016731.23, RCV000445642.1,

[PMID 20808897] Disease-associated mutations that alter the RNA structural ensemble.

[PMID 1705411] Molecular studies of beta-thalassemia in Israel. Mutational analysis and expression studies.

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