rs33954595

Orientation

minus

Stabilized

minus

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

Make rs33954595(A;A)

Make rs33954595(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226594

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33954595
dbSNP (classic)	rs33954595
ClinGen	rs33954595
ebi	rs33954595
HLI	rs33954595
Exac	rs33954595
Gnomad	rs33954595
Varsome	rs33954595
LitVar	rs33954595
Map	rs33954595
PheGenI	rs33954595
Biobank	rs33954595
1000 genomes	rs33954595
hgdp	rs33954595
ensembl	rs33954595
geneview	rs33954595
scholar	rs33954595
google	rs33954595
pharmgkb	rs33954595
gwascentral	rs33954595
openSNP	rs33954595
23andMe	rs33954595
SNPshot	rs33954595
SNPdbe	rs33954595
MSV3d	rs33954595
GWAS Ctlg	rs33954595

Max Magnitude

0

OMIM	141900
Desc
Variant	0146
Related	also

OMIM	141900
Desc
Variant	0301
Related	also

OMIM	141900
Desc
Variant	0307
Related	also

ClinVar
Risk	rs33954595(A;A) rs33954595(C;C) rs33954595(T;T)
Alt	rs33954595(A;A) rs33954595(C;C) rs33954595(T;T)
Reference	Rs33954595(G;G)
Significance	Other
Disease	HEMOGLOBIN YPSILANTI HEMOGLOBIN YAKIMA HEMOGLOBIN KEMPSEY
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN YPSILANTI HEMOGLOBIN YAKIMA HEMOGLOBIN KEMPSEY
Reversed	1
HGVS	NC_000011.9:g.5247824C>A; NC_000011.9:g.5247824C>G; NC_000011.9:g.5247824C>T
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016650.4, RCV000016644.2, RCV000016436.2,

[PMID 235541] The effects of inositol hexaphosphate on the allosteric properties of two beta-99-substituted abnormal hemoglobins, hemoglobin Yakima and hemoglobin Kempsey.

[PMID 4347702] States of hemoglobin in solution.

[PMID 4355556] Nuclear magnetic resonance and spin-label studies of hemoglobin Kempsey.

[PMID 4436316] Functional properties of hemoglobin Kempsey.

[PMID 5651043] Erythrocytosis secondary to increased oxygen affinity of a mutant hemoglobin, hemoglobin Kempsey.

[PMID 667362] 32P and acute leukemia: development of leukemia in a patient with hemoglobin Yakima.

[PMID 6061751] Hemoglobin Yakina. I. Clinical and biochemical studies.

[PMID 6061752] Hemoglobin Yakina. II. High blood oxygen affinity associated with compensatory erythrocytosis and normal hemodynamics.