rs33971634

minus

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

Make rs33971634(A;A)

Make rs33971634(A;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5225660

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33971634
dbSNP (classic)	rs33971634
ClinGen	rs33971634
ebi	rs33971634
HLI	rs33971634
Exac	rs33971634
Gnomad	rs33971634
Varsome	rs33971634
LitVar	rs33971634
Map	rs33971634
PheGenI	rs33971634
Biobank	rs33971634
1000 genomes	rs33971634
hgdp	rs33971634
ensembl	rs33971634
geneview	rs33971634
scholar	rs33971634
google	rs33971634
pharmgkb	rs33971634
gwascentral	rs33971634
openSNP	rs33971634
23andMe	rs33971634
SNPshot	rs33971634
SNPdbe	rs33971634
MSV3d	rs33971634
GWAS Ctlg	rs33971634

Max Magnitude

0

OMIM	141900
Desc
Variant	0027
Related	also

OMIM	141900
Desc
Variant	0096
Related	also

ClinVar
Risk	rs33971634(A;A) rs33971634(G;G) rs33971634(T;T)
Alt	rs33971634(A;A) rs33971634(G;G) rs33971634(T;T)
Reference	Rs33971634(C;C)
Significance	Other
Disease	HEMOGLOBIN HACETTEPE HEMOGLOBIN COMPLUTENSE HEMOGLOBIN BREST
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN HACETTEPE HEMOGLOBIN COMPLUTENSE HEMOGLOBIN BREST
Reversed	1
HGVS	NC_000011.9:g.5246890G>C; NC_000011.9:g.5246890G>T
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016366.3, RCV000016367.3, RCV000016270.2,

[PMID 938658] Hemoglobin Hacettepe or alpha 2 beta 2 127 (H5) Gln replaced by Glu.

[PMID 3660178] [Hemoglobin Complutense (beta 127 (H5) Gln replaced by Glu) in a Spanish family].

[PMID 3707969] Hb J-Antakya or alpha 2 beta (2)65(E9)Lys----Met in a Turkish family and Hb complutense or alpha 2 beta (2)127(H5)Gln----Glu in a Spanish family; correction of a previously published identification.

[PMID 3384710] Hemoglobin Brest [beta 127 (H5)Gln----Lys] a new unstable human hemoglobin variant located at the alpha 1 beta 1 interface with specific electrophoretic behavior.

[PMID 1958498] A novel mutation (nonsense beta 127) in exon 3 of the beta globin gene produces a variable thalassaemic phenotype.