rs33940051

Orientation

minus

Stabilized

minus

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

Make rs33940051(A;C)

Make rs33940051(C;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226645

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33940051
dbSNP (classic)	rs33940051
ClinGen	rs33940051
ebi	rs33940051
HLI	rs33940051
Exac	rs33940051
Gnomad	rs33940051
Varsome	rs33940051
LitVar	rs33940051
Map	rs33940051
PheGenI	rs33940051
Biobank	rs33940051
1000 genomes	rs33940051
hgdp	rs33940051
ensembl	rs33940051
geneview	rs33940051
scholar	rs33940051
google	rs33940051
pharmgkb	rs33940051
gwascentral	rs33940051
openSNP	rs33940051
23andMe	rs33940051
SNPshot	rs33940051
SNPdbe	rs33940051
MSV3d	rs33940051
GWAS Ctlg	rs33940051

Max Magnitude

0

OMIM	141900
Desc
Variant	0464
Related	also

OMIM	141900
Desc
Variant	0473
Related	also

ClinVar
Risk	rs33940051(C;C) rs33940051(G;G)
Alt	rs33940051(C;C) rs33940051(G;G)
Reference	Rs33940051(A;A)
Significance	Other
Disease	Hb gambara HEMOGLOBIN TSURUMAI
Variation	info
Gene	HBB
CLNDBN	Hb gambara HEMOGLOBIN TSURUMAI
Reversed	1
HGVS	NC_000011.9:g.5247875T>C; NC_000011.9:g.5247875T>G
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016827.26, RCV000016818.2,

[PMID 8811318] Hb Tsurumai [beta 82(EF6)Lys-->Gln]: a new Hb variant with high oxygen affinity and erythrocytosis.

[PMID 9255613] A new fast-moving variant causing erythrocytosis and mild hemolysis: Hb Gambara [beta 82(EF6)Lys-->Glu].