rs33978338

Orientation

minus

Stabilized

minus

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

Make rs33978338(C;C)

Make rs33978338(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226755

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33978338
dbSNP (classic)	rs33978338
ClinGen	rs33978338
ebi	rs33978338
HLI	rs33978338
Exac	rs33978338
Gnomad	rs33978338
Varsome	rs33978338
LitVar	rs33978338
Map	rs33978338
PheGenI	rs33978338
Biobank	rs33978338
1000 genomes	rs33978338
hgdp	rs33978338
ensembl	rs33978338
geneview	rs33978338
scholar	rs33978338
google	rs33978338
pharmgkb	rs33978338
gwascentral	rs33978338
openSNP	rs33978338
23andMe	rs33978338
SNPshot	rs33978338
SNPdbe	rs33978338
MSV3d	rs33978338
GWAS Ctlg	rs33978338

Max Magnitude

0

OMIM	141900
Desc
Variant	0047
Related	also

OMIM	141900
Desc
Variant	0458
Related	also

ClinVar
Risk	rs33978338(A;A) rs33978338(C;C) rs33978338(G;G)
Alt	rs33978338(A;A) rs33978338(C;C) rs33978338(G;G)
Reference	Rs33978338(T;T)
Significance	Other
Disease	HEMOGLOBIN ARTA HEMOGLOBIN CHEVERLY
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN ARTA HEMOGLOBIN CHEVERLY
Reversed	1
HGVS	NC_000011.9:g.5247985A>C; NC_000011.9:g.5247985A>G
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016812.2, RCV000016298.2,

[PMID 6815132] Hb Cheverly or alpha 2 beta 2 45(CD4)Phe replaced by Ser in an elderly Italian male.

[PMID 6877904] Hemoglobin Cheverly: an unstable hemoglobin associated with chronic mild anemia.

[PMID 8555060] Hb Arta [beta 45 (CD4) Phe-->Cys]: a new unstable haemoglobin with reduced oxygen affinity in trans with beta-thalassaemia.

[PMID 20113286] Hb Den Haag [beta45(CD4)Phe-->Tyr]. A new hemoglobin variant observed during early pregnancy diagnostics.