rs33910209

minus

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

Make rs33910209(A;A)

Make rs33910209(A;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5225648

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33910209
dbSNP (classic)	rs33910209
ClinGen	rs33910209
ebi	rs33910209
HLI	rs33910209
Exac	rs33910209
Gnomad	rs33910209
Varsome	rs33910209
LitVar	rs33910209
Map	rs33910209
PheGenI	rs33910209
Biobank	rs33910209
1000 genomes	rs33910209
hgdp	rs33910209
ensembl	rs33910209
geneview	rs33910209
scholar	rs33910209
google	rs33910209
pharmgkb	rs33910209
gwascentral	rs33910209
openSNP	rs33910209
23andMe	rs33910209
SNPshot	rs33910209
SNPdbe	rs33910209
MSV3d	rs33910209
GWAS Ctlg	rs33910209

Max Magnitude

0

OMIM	141900
Desc
Variant	0143
Related	also

OMIM	141900
Desc
Variant	0259
Related	also

ClinVar
Risk	rs33910209(A;A) rs33910209(G;G)
Alt	rs33910209(A;A) rs33910209(G;G)
Reference	Rs33910209(C;C)
Significance	Other
Disease	HEMOGLOBIN SHELBY HEMOGLOBIN LESLIE HEMOGLOBIN DEACONESS
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN SHELBY HEMOGLOBIN LESLIE HEMOGLOBIN DEACONESS
Reversed	1
HGVS	NC_000011.9:g.5246878G>T
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016593.4, RCV000016594.4, RCV000016595.4,

[PMID 808079] Hb Camden and Hb Hope found during routine testing.

[PMID 4550044] Letter: Amino-acid substitution in the alpha 1 beta 1 intersubunit contact of haemoglobin-Camden beta 131 (h9) g1n leads to g1u.

[PMID 747178] Is the trimodality of Hb Leslie (alpha 2 beta 2 131 Gln---O) in heterozygotes the result of a variable number of active alpha-chain genes? Evidence for posttranslational control of hemoglobin synthesis.

[PMID 1244915] Hb Leslie, an unstable hemoglobin due to deletion of glutaminyl residue beta 131 (H9) occurring in association with beta0-thalassemia, HbC, and HbS.

[PMID 1428946] Hb Shelby [alpha 2 beta 2(131)(H9)Gln----Lys]-beta zero-thalassemia [codon 15 (TGG----TGA)] identified by DNA sequencing.

[PMID 6526653] Hemoglobin Shelby [beta 131(H9) Gln----Lys] a correction to the structure of hemoglobin Deaconess and hemoglobin Leslie.

[PMID 6526654] Hb Leslie is the same as Hb Shelby or alpha 2 beta 2 131 (H9)Gln----Lys.

[PMID 7390864] beta 0-Thalassemia in association with Hb Leslie (alpha 2 beta 2 131Gln leads to O) in a Sardinian family.

[PMID 8226094] Hb Shelby [beta 131(H9)Gln-->Lys] in association with Hb S [beta 6(A3)Glu-->Val]: characterization, stability, and effects on Hb S polymerization.