rs33976006

Orientation

minus

Stabilized

minus

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

Make rs33976006(G;T)

Make rs33976006(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226668

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33976006
dbSNP (classic)	rs33976006
ClinGen	rs33976006
ebi	rs33976006
HLI	rs33976006
Exac	rs33976006
Gnomad	rs33976006
Varsome	rs33976006
LitVar	rs33976006
Map	rs33976006
PheGenI	rs33976006
Biobank	rs33976006
1000 genomes	rs33976006
hgdp	rs33976006
ensembl	rs33976006
geneview	rs33976006
scholar	rs33976006
google	rs33976006
pharmgkb	rs33976006
gwascentral	rs33976006
openSNP	rs33976006
23andMe	rs33976006
SNPshot	rs33976006
SNPdbe	rs33976006
MSV3d	rs33976006
GWAS Ctlg	rs33976006

Max Magnitude

0

OMIM	141900
Desc
Variant	0037
Related	also

OMIM	141900
Desc
Variant	0260
Related	also

ClinVar
Risk	rs33976006(A;A) rs33976006(T;T)
Alt	rs33976006(A;A) rs33976006(T;T)
Reference	Rs33976006(G;G)
Significance	Other
Disease	HEMOGLOBIN BUSHWICK HEMOGLOBIN SHEPHERDS BUSH
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN BUSHWICK HEMOGLOBIN SHEPHERDS BUSH
Reversed	1
HGVS	NC_000011.9:g.5247898C>A; NC_000011.9:g.5247898C>T
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016283.2, RCV000016596.2,

[PMID 1124135] Rapid postsynthetic destruction of unstable haemoglobin Bushwick.

[PMID 3841345] Hb Bushwick, an unstable hemoglobin with tendency to lose heme.

[PMID 7655024] Severe hemolytic anemia associated with the homozygous state for an unstable hemoglobin variant (Hb Bushwick).

[PMID 402764] Haemoglobin Shepherds Bush (beta 74 [E 18] Gly leads to Asp) in an Italian family.

[PMID 5032098] The control of oxygen affinity of red cells with Hb-Shepherds Bush.

[PMID 5415129] Mild "unstable haemoglobin haemolytic anaemia" caused by haemoglobin Shepherds Bush(B74(E18) gly--asp).

[PMID 7275665] HB Shepherds Bush (alpha 2 beta 2 74 (E18) Gly replaced by Asp) in two Italian carriers.