rs33948615

Orientation

minus

Stabilized

minus

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

Make rs33948615(A;A)

Make rs33948615(A;C)

Reference

GRCh38 38.1/142

Chromosome

11

Position

5226783

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33948615
dbSNP (classic)	rs33948615
ClinGen	rs33948615
ebi	rs33948615
HLI	rs33948615
Exac	rs33948615
Gnomad	rs33948615
Varsome	rs33948615
LitVar	rs33948615
Map	rs33948615
PheGenI	rs33948615
Biobank	rs33948615
1000 genomes	rs33948615
hgdp	rs33948615
ensembl	rs33948615
geneview	rs33948615
scholar	rs33948615
google	rs33948615
pharmgkb	rs33948615
gwascentral	rs33948615
openSNP	rs33948615
23andMe	rs33948615
SNPshot	rs33948615
SNPdbe	rs33948615
MSV3d	rs33948615
GWAS Ctlg	rs33948615

Max Magnitude

0

OMIM	141900
Desc
Variant	0158
Related	also

OMIM	141900
Desc
Variant	0199
Related	also

OMIM	141900
Desc
Variant	0487
Related	also

ClinVar
Risk	rs33948615(A;A) rs33948615(G;G) rs33948615(T;T)
Alt	rs33948615(A;A) rs33948615(G;G) rs33948615(T;T)
Reference	Rs33948615(C;C)
Significance	Other
Disease	HEMOGLOBIN NORTH CHICAGO HEMOGLOBIN BRIE COMTE ROBERT HEMOGLOBIN LINKOPING HEMOGLOBIN MEILAHTI
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN NORTH CHICAGO HEMOGLOBIN BRIE COMTE ROBERT HEMOGLOBIN LINKOPING HEMOGLOBIN MEILAHTI
Reversed	1
HGVS	NC_000011.9:g.5248013G>A; NC_000011.9:g.5248013G>C; NC_000011.9:g.5248013G>T
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016520.3, RCV000016842.2, RCV000016455.4, RCV000016456.4,

[PMID 1445029] The use of the polymerase chain reaction in the identification of a high oxygen affinity haemoglobin--Hb Finlandia.

[PMID 3096913] Hemoglobin Linkoping [beta 36 (C2) Pro----Thr] in a large Finnish family from Astoria, Oregon, USA.

[PMID 6548480] Hb-Linkoping (beta 36 Pro----Thr): a new hemoglobin mutant characterized by reversed-phase high-performance liquid chromatography.

[PMID 3937824] Hemoglobin North Chicago (beta 36 [C2] proline----serine): a new high affinity hemoglobin.

[PMID 10490142] Hb Brie Comte Robert [beta36(C2)Pro-->Ala]: a new hemoglobin variant with high oxygen affinity and marked hydrophobic properties.