rs33912272

Orientation

minus

Stabilized

minus

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

Make rs33912272(C;T)

Make rs33912272(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5227006

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33912272
dbSNP (classic)	rs33912272
ClinGen	rs33912272
ebi	rs33912272
HLI	rs33912272
Exac	rs33912272
Gnomad	rs33912272
Varsome	rs33912272
LitVar	rs33912272
Map	rs33912272
PheGenI	rs33912272
Biobank	rs33912272
1000 genomes	rs33912272
hgdp	rs33912272
ensembl	rs33912272
geneview	rs33912272
scholar	rs33912272
google	rs33912272
pharmgkb	rs33912272
gwascentral	rs33912272
openSNP	rs33912272
23andMe	rs33912272
SNPshot	rs33912272
SNPdbe	rs33912272
MSV3d	rs33912272
GWAS Ctlg	rs33912272

GMAF

0.0004591

Max Magnitude

0

OMIM	141900
Desc
Variant	0451
Related	also

ClinVar
Risk	rs33912272(G;G) rs33912272(T;T)
Alt	rs33912272(G;G) rs33912272(T;T)
Reference	Rs33912272(C;C)
Significance	Other
Disease	HEMOGLOBIN TYNE
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN TYNE
Reversed	1
HGVS	NC_000011.9:g.5248236G>A
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016806.2,

[PMID 7852088] A new beta chain variant, Hb Tyne [beta 5(A2)Pro-->Ser].

[PMID 12507970] Hemoglobin Gorwihl [alpha2beta(2)5(A2)Pro-->Ala], an electrophoretically silent variant with impaired glycation.

[PMID 20353350] Relationship between impaired glycation and the N-terminal structure of the Hb Gorwihl [beta5(A2)Pro-->Ala] variant.