rs33918343

Orientation

minus

Stabilized

minus

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

Make rs33918343(A;A)

Make rs33918343(A;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226689

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33918343
dbSNP (classic)	rs33918343
ClinGen	rs33918343
ebi	rs33918343
HLI	rs33918343
Exac	rs33918343
Gnomad	rs33918343
Varsome	rs33918343
LitVar	rs33918343
Map	rs33918343
PheGenI	rs33918343
Biobank	rs33918343
1000 genomes	rs33918343
hgdp	rs33918343
ensembl	rs33918343
geneview	rs33918343
scholar	rs33918343
google	rs33918343
pharmgkb	rs33918343
gwascentral	rs33918343
openSNP	rs33918343
23andMe	rs33918343
SNPshot	rs33918343
SNPdbe	rs33918343
MSV3d	rs33918343
GWAS Ctlg	rs33918343

Max Magnitude

0

OMIM	141900
Desc
Variant	0163
Related	also

OMIM	141900
Desc
Variant	0274
Related	also

OMIM	141900
Desc
Variant	0438
Related	also

ClinVar
Risk	rs33918343(A;A) rs33918343(C;C) rs33918343(G;G)
Alt	rs33918343(A;A) rs33918343(C;C) rs33918343(G;G)
Reference	Rs33918343(T;T)
Significance	Other
Disease	HEMOGLOBIN MANUKAU HEMOGLOBIN SYDNEY HEMOGLOBIN M (MILWAUKEE 1)
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN MANUKAU HEMOGLOBIN SYDNEY HEMOGLOBIN M (MILWAUKEE 1)
Reversed	1
HGVS	NC_000011.9:g.5247919A>C; NC_000011.9:g.5247919A>G; NC_000011.9:g.5247919A>T
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016792.2, RCV000016615.3, RCV000016462.2,

[PMID 4311041] Properties of hemoglobin M, Milwaukee-I variant and its unique characteristic.

[PMID 5420327] Some observations on the properties of hemoglobin M Milwaukee-1.

[PMID 6050213] Haemoglobin sydney: Beta-67 (E11) valine modified to alanine: an emerging pattern of unstable haemoglobins.

[PMID 8280608] Haemoglobin Manukau beta 67[E11] Val-->Gly: transfusion-dependent haemolytic anaemia ameliorated by coexisting alpha thalassaemia.