rs33969727

Orientation

minus

Stabilized

minus

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

Make rs33969727(C;G)

Make rs33969727(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226737

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33969727
dbSNP (classic)	rs33969727
ClinGen	rs33969727
ebi	rs33969727
HLI	rs33969727
Exac	rs33969727
Gnomad	rs33969727
Varsome	rs33969727
LitVar	rs33969727
Map	rs33969727
PheGenI	rs33969727
Biobank	rs33969727
1000 genomes	rs33969727
hgdp	rs33969727
ensembl	rs33969727
geneview	rs33969727
scholar	rs33969727
google	rs33969727
pharmgkb	rs33969727
gwascentral	rs33969727
openSNP	rs33969727
23andMe	rs33969727
SNPshot	rs33969727
SNPdbe	rs33969727
MSV3d	rs33969727
GWAS Ctlg	rs33969727

Max Magnitude

0

OMIM	141900
Desc
Variant	0298
Related	also

ClinVar
Risk	rs33969727(A;A) rs33969727(G;G)
Alt	rs33969727(A;A) rs33969727(G;G)
Reference	Rs33969727(C;C)
Significance	Other
Disease	HEMOGLOBIN WILLAMETTE
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN WILLAMETTE
Reversed	1
HGVS	NC_000011.9:g.5247967G>C
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016629.3,

[PMID 6590550] A second family with hemoglobin Willamette.

[PMID 6841127] Oxygen equilibrium studies of Hb Willamette alpha 2 beta (2)51(D2)Pro leads to Arg.

[PMID 9547908] The effect of an unusual haemoglobin variant (beta 51Pro-->His) on haemoglobin A1c measurement.

[PMID 11482884] Rapid identification of hemoglobin variants by electrospray ionization mass spectrometry.