rs33916412

Orientation

minus

Stabilized

minus

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

Make rs33916412(C;C)

Make rs33916412(C;T)

Reference

GRCh38 38.1/142

Chromosome

11

Position

5226936

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33916412
dbSNP (classic)	rs33916412
ClinGen	rs33916412
ebi	rs33916412
HLI	rs33916412
Exac	rs33916412
Gnomad	rs33916412
Varsome	rs33916412
LitVar	rs33916412
Map	rs33916412
PheGenI	rs33916412
Biobank	rs33916412
1000 genomes	rs33916412
hgdp	rs33916412
ensembl	rs33916412
geneview	rs33916412
scholar	rs33916412
google	rs33916412
pharmgkb	rs33916412
gwascentral	rs33916412
openSNP	rs33916412
23andMe	rs33916412
SNPshot	rs33916412
SNPdbe	rs33916412
MSV3d	rs33916412
GWAS Ctlg	rs33916412

Max Magnitude

0

OMIM	141900
Desc
Variant	0093
Related	also

OMIM	141900
Desc
Variant	0268
Related	also

OMIM	141900
Desc
Variant	0402
Related	also

ClinVar
Risk	rs33916412(A;A) rs33916412(C;C) rs33916412(G;G)
Alt	rs33916412(A;A) rs33916412(C;C) rs33916412(G;G)
Reference	Rs33916412(T;T)
Significance	Other
Disease	HEMOGLOBIN CHESTERFIELD HEMOGLOBIN GENOVA HEMOGLOBIN HYOGO HEMOGLOBIN ST. LOUIS Heinz body anemia
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN CHESTERFIELD HEMOGLOBIN GENOVA HEMOGLOBIN HYOGO HEMOGLOBIN ST. LOUIS Heinz body anemia
Reversed	1
HGVS	NC_000011.9:g.5248166A>C; NC_000011.9:g.5248166A>G; NC_000011.9:g.5248166A>T
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016751.2, RCV000016362.2, RCV000016363.2, RCV000016611.3, RCV000016612.27,

[PMID 186485] Functional and physicochemical studies of hemoglobin St. Louis beta 28 (B10) Leu replaced by Gln: a variant with ferric beta heme iron.

[PMID 3557999] Hb Saint Louis or alpha 2 beta 2(28)(B10)Leu----Gln in a Czechoslovakian male.

[PMID 4722493] Haemoglobin Saint Louis beta28 (B10) leucine leads to glutamine. A new unstable haemoglobin only present in a ferri form.

[PMID 2105568] A case of the unstable Hb Genova (beta 28 Leu----Pro) in an Arab child associated with severe haemolytic anaemia and growth retardation.

[PMID 4685078] A new case of hemoglobin Genova 2 2 28(B10) Leu leads to Pro. Further studies on the mechanism of instability and defective synthesis.

[PMID 6054966] Haemoglobin Genova: beta-28 (B10) leucine replaced by proline.

[PMID 1675132] Hemoglobin Chesterfield (beta 28 Leu----Arg) produces the phenotype of inclusion body beta thalassemia.