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rs33954264

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33954264(A;C)
Make rs33954264(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225602
GeneHBB
is asnp
is mentioned by
dbSNPrs33954264
ebirs33954264
HLIrs33954264
Exacrs33954264
Varsomers33954264
Maprs33954264
PheGenIrs33954264
hapmaprs33954264
1000 genomesrs33954264
hgdprs33954264
ensemblrs33954264
gopubmedrs33954264
geneviewrs33954264
scholarrs33954264
googlers33954264
pharmgkbrs33954264
gwascentralrs33954264
openSNPrs33954264
23andMers33954264
23andMe allrs33954264
SNP Nexus

SNPshotrs33954264
SNPdbers33954264
MSV3drs33954264
GWAS Ctlgrs33954264
Max Magnitude0
OMIM141900
Desc
Variant0051
Relatedalso
OMIM141900
Desc
Variant0056
Relatedalso
OMIM141900
Desc
Variant0305
Relatedalso
ClinVar
Risk rs33954264(C,G,T;C,G,T)
Alt rs33954264(C,G,T;C,G,T)
Reference rs33954264(A;A)
Significance Other
Disease HEMOGLOBIN COWTOWN HEMOGLOBIN COCHIN-PORT ROYAL HEMOGLOBIN YORK
Variation info
Gene HBB
CLNDBN HEMOGLOBIN COWTOWN HEMOGLOBIN COCHIN-PORT ROYAL HEMOGLOBIN YORK
Reversed 1
HGVS NC_000011.9:g.5246832T>A; NC_000011.9:g.5246832T>C; NC_000011.9:g.5246832T>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016307.2, RCV000016302.2, RCV000016648.2,


[PMID 1246355] Altered C-terminal salt bridges in haemoglobin York cause high oxygen affinity.


[PMID 3707904] Assessment of role of beta 146-histidyl and other histidyl residues in the Bohr effect of human normal adult hemoglobin.


[PMID 6874372] Characterization and properties of Hb York (beta 146 His leads to Pro).


[PMID 240418] Hemoglobin Cochin-Port-Royal: consequences of the replacement of the beta chain C-terminal by an arginine.


[PMID 42311] Hemoglobin Cowtown (beta 146 HC3 His-Leu): a mutant with high oxygen affinity and erythrocytosis.


[PMID 6589624OA-icon.png] Structure of deoxyhemoglobin Cowtown [His HC3(146) beta----Leu]: origin of the alkaline Bohr effect and electrostatic interactions in hemoglobin.