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rs33954595

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33954595(A;A)
Make rs33954595(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226594
GeneHBB
is asnp
is mentioned by
dbSNPrs33954595
ebirs33954595
HLIrs33954595
Exacrs33954595
Varsomers33954595
Maprs33954595
PheGenIrs33954595
hapmaprs33954595
1000 genomesrs33954595
hgdprs33954595
ensemblrs33954595
gopubmedrs33954595
geneviewrs33954595
scholarrs33954595
googlers33954595
pharmgkbrs33954595
gwascentralrs33954595
openSNPrs33954595
23andMers33954595
23andMe allrs33954595
SNP Nexus

SNPshotrs33954595
SNPdbers33954595
MSV3drs33954595
GWAS Ctlgrs33954595
Max Magnitude0
OMIM141900
Desc
Variant0146
Relatedalso
OMIM141900
Desc
Variant0301
Relatedalso
OMIM141900
Desc
Variant0307
Relatedalso
ClinVar
Risk rs33954595(A,C,T;A,C,T)
Alt rs33954595(A,C,T;A,C,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 6061751OA-icon.png] Hemoglobin Yakina. I. Clinical and biochemical studies.


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