rs63750783

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226975

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs63750783
dbSNP (classic)	rs63750783
ClinGen	rs63750783
ebi	rs63750783
HLI	rs63750783
Exac	rs63750783
Gnomad	rs63750783
Varsome	rs63750783
LitVar	rs63750783
Map	rs63750783
PheGenI	rs63750783
Biobank	rs63750783
1000 genomes	rs63750783
hgdp	rs63750783
ensembl	rs63750783
geneview	rs63750783
scholar	rs63750783
google	rs63750783
pharmgkb	rs63750783
gwascentral	rs63750783
openSNP	rs63750783
23andMe	rs63750783
SNPshot	rs63750783
SNPdbe	rs63750783
MSV3d	rs63750783
GWAS Ctlg	rs63750783

Max Magnitude

5.5

OMIM	141900
Desc
Variant	0313
Related	also

ClinVar
Risk	Rs63750783(A;A)
Alt	Rs63750783(A;A)
Reference	Rs63750783(G;G)
Significance	Pathogenic
Disease	beta^0^ Thalassemia
Variation	info
Gene	HBB
CLNDBN	beta^0^ Thalassemia
Reversed	1
HGVS	NC_000011.9:g.5248205C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000016657.27,

[PMID 2298457] Molecular basis of beta-thalassemia in Turkey: detection of rare mutations by direct sequencing.

[PMID 7668221] Hb Lulu Island (alpha 2 beta 2 107[G9]Gly-->Asp)-beta zero- thalassemia (codon 15; TGG-->TAG), a form of thalassemia intermedia.