rs33959340

minus

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

Make rs33959340(C;C)

Make rs33959340(C;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226609

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33959340
dbSNP (classic)	rs33959340
ClinGen	rs33959340
ebi	rs33959340
HLI	rs33959340
Exac	rs33959340
Gnomad	rs33959340
Varsome	rs33959340
LitVar	rs33959340
Map	rs33959340
PheGenI	rs33959340
Biobank	rs33959340
1000 genomes	rs33959340
hgdp	rs33959340
ensembl	rs33959340
geneview	rs33959340
scholar	rs33959340
google	rs33959340
pharmgkb	rs33959340
gwascentral	rs33959340
openSNP	rs33959340
23andMe	rs33959340
SNPshot	rs33959340
SNPdbe	rs33959340
MSV3d	rs33959340
GWAS Ctlg	rs33959340

Max Magnitude

0

OMIM	141900
Desc
Variant	0016
Related	also

OMIM	141900
Desc
Variant	0035
Related	also

OMIM	141900
Desc
Variant	0535
Related	also

ClinVar
Risk	rs33959340(A;A) rs33959340(C;C) rs33959340(T;T)
Alt	rs33959340(A;A) rs33959340(C;C) rs33959340(T;T)
Reference	Rs33959340(G;G)
Significance	Other
Disease	HEMOGLOBIN GELDROP ST. ANNA HEMOGLOBIN BARCELONA HEMOGLOBIN BUNBURY
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN GELDROP ST. ANNA HEMOGLOBIN BARCELONA HEMOGLOBIN BUNBURY
Reversed	1
HGVS	NC_000011.9:g.5247839C>A; NC_000011.9:g.5247839C>G; NC_000011.9:g.5247839C>T
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016887.2, RCV000016258.2, RCV000016281.2,

[PMID 6842599] Structure and function of haemoglobin Barcelona Asp FG1(94) beta leads to His.

[PMID 7097767] Structural and functional studies of hemoglobin Barcelona (alpha 2 beta 2 94 Asp (FG1) replaced by His). Consequences of altering an important intrachain salt bridge involved in the alkaline Bohr effect.

[PMID 1517105] Erythrocytosis secondary to HB Bunbury [alpha 2 beta (2)94(FG1)Asp----Asn].

[PMID 6629823] A new hemoglobin with high oxygen affinity--hemoglobin bunbury: alpha 2 beta 2 [94 (FG1) Asp replaced by Asn].

[PMID 15921163] A novel mutation of the alpha2-globin causing alpha(+)-thalassemia: Hb Plasencia [alpha125(H8)Leu--Arg (alpha2).