rs33922842

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs33922842(C;C)

Make rs33922842(C;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226762

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33922842
dbSNP (classic)	rs33922842
ClinGen	rs33922842
ebi	rs33922842
HLI	rs33922842
Exac	rs33922842
Gnomad	rs33922842
Varsome	rs33922842
LitVar	rs33922842
Map	rs33922842
PheGenI	rs33922842
Biobank	rs33922842
1000 genomes	rs33922842
hgdp	rs33922842
ensembl	rs33922842
geneview	rs33922842
scholar	rs33922842
google	rs33922842
pharmgkb	rs33922842
gwascentral	rs33922842
openSNP	rs33922842
23andMe	rs33922842
SNPshot	rs33922842
SNPdbe	rs33922842
MSV3d	rs33922842
GWAS Ctlg	rs33922842

Max Magnitude

0

OMIM	141900
Desc
Variant	0113
Related	also

OMIM	141900
Desc
Variant	0316
Related	also

ClinVar
Risk	rs33922842(A;A) rs33922842(C;C) rs33922842(T;T)
Alt	rs33922842(A;A) rs33922842(C;C) rs33922842(T;T)
Reference	Rs33922842(G;G)
Significance	Pathogenic
Disease	beta^0^ Thalassemia not specified
Variation	info
Gene	HBB
CLNDBN	beta^0^ Thalassemia not specified
Reversed	1
HGVS	NC_000011.9:g.5247992C>A; NC_000011.9:g.5247992C>G
CLNSRC	OMIM Allelic Variant HBVAR UniProtKB (protein)
CLNACC	RCV000016660.26, RCV000016387.4,

[PMID 701082] Hemoglobin Hoshida (beta43 (cd-2) Glu leads to Gln), a new hemoglobin variant discovered in Japan.

[PMID 1814859] Hb Hoshida [beta 43(CD2)Glu----Gln] observed in a Yugoslavian family.

[PMID 3403716] New amber mutation in a beta-thalassemic gene with nonmeasurable levels of mutant messenger RNA in vivo.