rs33919821

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs33919821(C;C)

Make rs33919821(C;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5225627

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33919821
dbSNP (classic)	rs33919821
ClinGen	rs33919821
ebi	rs33919821
HLI	rs33919821
Exac	rs33919821
Gnomad	rs33919821
Varsome	rs33919821
LitVar	rs33919821
Map	rs33919821
PheGenI	rs33919821
Biobank	rs33919821
1000 genomes	rs33919821
hgdp	rs33919821
ensembl	rs33919821
geneview	rs33919821
scholar	rs33919821
google	rs33919821
pharmgkb	rs33919821
gwascentral	rs33919821
openSNP	rs33919821
23andMe	rs33919821
SNPshot	rs33919821
SNPdbe	rs33919821
MSV3d	rs33919821
GWAS Ctlg	rs33919821

Max Magnitude

0

OMIM	141900
Desc
Variant	0032
Related	also

OMIM	141900
Desc
Variant	0517
Related	also

ClinVar
Risk	rs33919821(A;A) rs33919821(C;C)
Alt	rs33919821(A;A) rs33919821(C;C)
Reference	Rs33919821(G;G)
Significance	Other
Disease	HEMOGLOBIN BROCKTON HEMOGLOBIN BUZEN
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN BROCKTON HEMOGLOBIN BUZEN
Reversed	1
HGVS	NC_000011.9:g.5246857C>G; NC_000011.9:g.5246857C>T
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016275.3, RCV000016873.2,

[PMID 2599887] Hb Brockton [alpha 2 beta 2138(H16)Ala----Pro] observed in a Turkish girl.

[PMID 6252122] Hemoglobin variants and methods used for their characterization during 7 years of screening at the Center for Disease Control.

[PMID 9730372] Hb Brockton [beta138(H16)Ala-->Pro] observed in a Chinese boy.

[PMID 14649315] Hb Buzen [beta138(H16)Ala --> Thr (g.1395 G -->A)]: a new beta chain variant.