rs33983276

Orientation

minus

Stabilized

minus

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

Make rs33983276(C;G)

Make rs33983276(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5225668

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33983276
dbSNP (classic)	rs33983276
ClinGen	rs33983276
ebi	rs33983276
HLI	rs33983276
Exac	rs33983276
Gnomad	rs33983276
Varsome	rs33983276
LitVar	rs33983276
Map	rs33983276
PheGenI	rs33983276
Biobank	rs33983276
1000 genomes	rs33983276
hgdp	rs33983276
ensembl	rs33983276
geneview	rs33983276
scholar	rs33983276
google	rs33983276
pharmgkb	rs33983276
gwascentral	rs33983276
openSNP	rs33983276
23andMe	rs33983276
SNPshot	rs33983276
SNPdbe	rs33983276
MSV3d	rs33983276
GWAS Ctlg	rs33983276

Max Magnitude

0

OMIM	141900
Desc
Variant	0148
Related	also

OMIM	141900
Desc
Variant	0289
Related	also

OMIM	141900
Desc
Variant	0481
Related	also

ClinVar
Risk	rs33983276(A;A) rs33983276(G;G) rs33983276(T;T)
Alt	rs33983276(A;A) rs33983276(G;G) rs33983276(T;T)
Reference	Rs33983276(C;C)
Significance	Other
Disease	HEMOGLOBIN TENDE HEMOGLOBIN KHARTOUM HEMOGLOBIN TY GARD
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN TENDE HEMOGLOBIN KHARTOUM HEMOGLOBIN TY GARD
Reversed	1
HGVS	NC_000011.9:g.5246898G>A; NC_000011.9:g.5246898G>C; NC_000011.9:g.5246898G>T
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016836.2, RCV000016438.2, RCV000016632.2,

[PMID 639985] Hemoglobin Ty GARD (alphaA2beta2 124 (H2) Pro replaced by Gln). A stable high O2 affinity variant at the alpha1beta1 contact.

[PMID 9859935] Hb Tende [beta124(H2)Pro-->Leu]: a new variant with a moderate increase in oxygen affinity.