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rs33961444

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33961444(C;G)
Make rs33961444(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225603
GeneHBB
is asnp
is mentioned by
dbSNPrs33961444
ebirs33961444
HLIrs33961444
Exacrs33961444
Varsomers33961444
Maprs33961444
PheGenIrs33961444
hapmaprs33961444
1000 genomesrs33961444
hgdprs33961444
ensemblrs33961444
gopubmedrs33961444
geneviewrs33961444
scholarrs33961444
googlers33961444
pharmgkbrs33961444
gwascentralrs33961444
openSNPrs33961444
23andMers33961444
23andMe allrs33961444
SNP Nexus

SNPshotrs33961444
SNPdbers33961444
MSV3drs33961444
GWAS Ctlgrs33961444
Max Magnitude0
OMIM141900
Desc
Variant0110
Relatedalso
OMIM141900
Desc
Variant0489
Relatedalso
ClinVar
Risk rs33961444(G,T;G,T)
Alt rs33961444(G,T;G,T)
Reference rs33961444(C;C)
Significance Other
Disease HEMOGLOBIN BOLOGNA-ST. ORSOLA HEMOGLOBIN HIROSHIMA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN BOLOGNA-ST. ORSOLA HEMOGLOBIN HIROSHIMA
Reversed 1
HGVS NC_000011.9:g.5246833G>A; NC_000011.9:g.5246833G>C
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016844.2, RCV000016383.2,


[PMID 5097577OA-icon.png] Ligand kinetics in hemoglobin Hiroshima.


[PMID 5682299] Oxygen equilibrium of hemoglobin Hiroshima.


[PMID 5698004] Oxygen-equilibrium characteristics of abnormal hemoglobin Hiroshima (alpha-2 beta-2 143 Asp).


[PMID 5773089OA-icon.png] Hemoglobin Hiroshima (beta-143 histidine--aspartic acid): a newly identified fast moving beta chain variant associated with increased oxygen affinity and compensatory erythremia.


[PMID 9054694] Haemoglobin Hallamshire (beta146 HIS --> TYR): a new high oxygen affinity haemoglobin responsible for familial erythrocytosis.


[PMID 10569724] Hb Bologna-St. Orsola [beta146(HC3)His-->Tyr]: a new high oxygen affinity variant with halved Bohr effect and highly reduced reactivity towards 2,3-diphosphoglycerate.


[PMID 10870885] A second case of Hb Bologna-St. Orsola [beta146(HC3)His-->Tyr] in an unrelated family of Anglo-Celtic origin.