rs33949930

Orientation

minus

Stabilized

minus

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

Make rs33949930(C;C)

Make rs33949930(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5227017

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33949930
dbSNP (classic)	rs33949930
ClinGen	rs33949930
ebi	rs33949930
HLI	rs33949930
Exac	rs33949930
Gnomad	rs33949930
Varsome	rs33949930
LitVar	rs33949930
Map	rs33949930
PheGenI	rs33949930
Biobank	rs33949930
1000 genomes	rs33949930
hgdp	rs33949930
ensembl	rs33949930
geneview	rs33949930
scholar	rs33949930
google	rs33949930
pharmgkb	rs33949930
gwascentral	rs33949930
openSNP	rs33949930
23andMe	rs33949930
SNPshot	rs33949930
SNPdbe	rs33949930
MSV3d	rs33949930
GWAS Ctlg	rs33949930

Merged from

Rs121909815, Rs121909830

Max Magnitude

0

OMIM	141900
Desc
Variant	0069
Related	also

OMIM	141900
Desc
Variant	0233
Related	also

OMIM	141900
Desc
Variant	0497
Related	also

ClinVar
Risk	rs33949930(A;A) rs33949930(C;C) rs33949930(G;G)
Alt	rs33949930(A;A) rs33949930(C;C) rs33949930(G;G)
Reference	Rs33949930(T;T)
Significance	Other
Disease	HEMOGLOBIN WATFORD HEMOGLOBIN RALEIGH HEMOGLOBIN DOHA
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN WATFORD HEMOGLOBIN RALEIGH HEMOGLOBIN DOHA
Reversed	1
HGVS	NC_000011.9:g.5248247A>C; NC_000011.9:g.5248247A>G; NC_000011.9:g.5248247A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016854.2, RCV000016563.4, RCV000016327.3,

[PMID 20942] Hemoglobin Raleigh (beta1 valine replaced by acetylalanine). Structural and functional characterization.

[PMID 8226093] Rare beta chain hemoglobin variants found in Swedish patients during HBA1c analysis.

[PMID 9625056] Hemoglobin Raleigh as the cause of a falsely increased hemoglobin A1C in an automated ion-exchange HPLC method.

[PMID 3840039] Hb Doha or alpha 2 beta 2[X-N-Met-1(NA1)Val----Glu]; a new beta-chain abnormal hemoglobin observed in a Qatari female.

[PMID 11186267] Hb Watford [beta1(NA1)Val-->Gly]: a new, clinically silent hemoglobin variant in linkage with a new neutral mutation.

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