rs33946401

Orientation

minus

Stabilized

minus

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

Make rs33946401(A;A)

Make rs33946401(A;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226680

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33946401
dbSNP (classic)	rs33946401
ClinGen	rs33946401
ebi	rs33946401
HLI	rs33946401
Exac	rs33946401
Gnomad	rs33946401
Varsome	rs33946401
LitVar	rs33946401
Map	rs33946401
PheGenI	rs33946401
Biobank	rs33946401
1000 genomes	rs33946401
hgdp	rs33946401
ensembl	rs33946401
geneview	rs33946401
scholar	rs33946401
google	rs33946401
pharmgkb	rs33946401
gwascentral	rs33946401
openSNP	rs33946401
23andMe	rs33946401
SNPshot	rs33946401
SNPdbe	rs33946401
MSV3d	rs33946401
GWAS Ctlg	rs33946401

Max Magnitude

0

OMIM	141900
Desc
Variant	0256
Related	also

OMIM	141900
Desc
Variant	0536
Related	also

ClinVar
Risk	rs33946401(A;A) rs33946401(G;G) rs33946401(T;T)
Alt	rs33946401(A;A) rs33946401(G;G) rs33946401(T;T)
Reference	Rs33946401(C;C)
Significance	Other
Disease	HEMOGLOBIN MARINEO HEMOGLOBIN SEATTLE
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN MARINEO HEMOGLOBIN SEATTLE
Reversed	1
HGVS	NC_000011.9:g.5247910G>A; NC_000011.9:g.5247910G>T
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016888.2, RCV000016589.3,

[PMID 5427455] Hemoglobin-Seattle (alpha-2 beta-2 76-Glu): an unstable hemoglobin causing chronic hemolytic anemia.

[PMID 7928380] Hb Seattle [beta 70(E14)Ala- > Asp]: a report of a second kindred in a Ukrainian family.

[PMID 16798637] Hb Marineo [beta70(E14)Ala-->Val]: a silent hemoglobin variant with a mutation within the heme pocket.