rs33952850

Orientation

minus

Stabilized

minus

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

Make rs33952850(G;G)

Make rs33952850(G;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226746

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33952850
dbSNP (classic)	rs33952850
ClinGen	rs33952850
ebi	rs33952850
HLI	rs33952850
Exac	rs33952850
Gnomad	rs33952850
Varsome	rs33952850
LitVar	rs33952850
Map	rs33952850
PheGenI	rs33952850
Biobank	rs33952850
1000 genomes	rs33952850
hgdp	rs33952850
ensembl	rs33952850
geneview	rs33952850
scholar	rs33952850
google	rs33952850
pharmgkb	rs33952850
gwascentral	rs33952850
openSNP	rs33952850
23andMe	rs33952850
SNPshot	rs33952850
SNPdbe	rs33952850
MSV3d	rs33952850
GWAS Ctlg	rs33952850

Max Magnitude

0

OMIM	141900
Desc
Variant	0205
Related	also

OMIM	141900
Desc
Variant	0421
Related	also

ClinVar
Risk	rs33952850(C;C) rs33952850(G;G)
Alt	rs33952850(C;C) rs33952850(G;G)
Reference	Rs33952850(T;T)
Significance	Other
Disease	HEMOGLOBIN OKALOOSA HEMOGLOBIN BAB-SAADOUN
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN OKALOOSA HEMOGLOBIN BAB-SAADOUN
Reversed	1
HGVS	NC_000011.9:g.5247976A>C; NC_000011.9:g.5247976A>G
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016528.2, RCV000016772.2,

[PMID 4748512] Hemoglobin Okaloosa (beta 48 (CD7) leucine leads to arginine). An unstable variant with low oxygen affinity.

[PMID 1517103] Hb Bab-Saadoun or alpha 2 beta (2)48(CD7)Leu----Pro, a mildly unstable variant found in an Arabian boy from Tunisia.