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rs33987903

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33987903(A;C)
Make rs33987903(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226644
GeneHBB
is asnp
is mentioned by
dbSNPrs33987903
ebirs33987903
HLIrs33987903
Exacrs33987903
Varsomers33987903
Maprs33987903
PheGenIrs33987903
hapmaprs33987903
1000 genomesrs33987903
hgdprs33987903
ensemblrs33987903
gopubmedrs33987903
geneviewrs33987903
scholarrs33987903
googlers33987903
pharmgkbrs33987903
gwascentralrs33987903
openSNPrs33987903
23andMers33987903
23andMe allrs33987903
SNP Nexus

SNPshotrs33987903
SNPdbers33987903
MSV3drs33987903
GWAS Ctlgrs33987903
Max Magnitude0
OMIM141900
Desc
Variant0103
Relatedalso
OMIM141900
Desc
Variant0231
Relatedalso
ClinVar
Risk rs33987903(C,G,T;C,G,T)
Alt rs33987903(C,G,T;C,G,T)
Reference rs33987903(A;A)
Significance Other
Disease HEMOGLOBIN HELSINKI HEMOGLOBIN RAHERE
Variation info
Gene HBB
CLNDBN HEMOGLOBIN HELSINKI HEMOGLOBIN RAHERE
Reversed 1
HGVS NC_000011.9:g.5247874T>A; NC_000011.9:g.5247874T>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016376.2, RCV000016561.2,


[PMID 124OA-icon.png] Haemoglobin Rahere (beta Lys-Thr): A new high affinity haemoglobin associated with decreased 2, 3-diphosphoglycerate binding and relative polycythaemia.


[PMID 3930571OA-icon.png] Hemoglobin Rahere, a human hemoglobin variant with amino acid substitution at the 2,3-diphosphoglycerate binding site. Functional consequences of the alteration and effects of bezafibrate on the oxygen bindings.


[PMID 826083] Hb Helsinki: a variant with a high oxygen affinity and a substitution at a 2,3-DPG binding site (beta82[EF6] Lys replaced by Met).


[PMID 11482884] Rapid identification of hemoglobin variants by electrospray ionization mass spectrometry.


[PMID 16370484] Hb Stara Zagora: a new hyper-unstable hemoglobin causing severe hemolytic anemia.


[PMID 16370489] Hb taradale [beta82(EF6)Lys-->Arg]: a novel mutation at a 2,3-diphosphoglycerate binding site.