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rs33921589

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs33921589(A;A)
Make rs33921589(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226582
GeneHBB
is asnp
is mentioned by
dbSNPrs33921589
ebirs33921589
HLIrs33921589
Exacrs33921589
Varsomers33921589
Maprs33921589
PheGenIrs33921589
hapmaprs33921589
1000 genomesrs33921589
hgdprs33921589
ensemblrs33921589
gopubmedrs33921589
geneviewrs33921589
scholarrs33921589
googlers33921589
pharmgkbrs33921589
gwascentralrs33921589
openSNPrs33921589
23andMers33921589
23andMe allrs33921589
SNP Nexus

SNPshotrs33921589
SNPdbers33921589
MSV3drs33921589
GWAS Ctlgrs33921589
Max Magnitude0
OMIM141900
Desc
Variant0436
Relatedalso
OMIM141900
Desc
Variant0519
Relatedalso
ClinVar
Risk rs33921589(A,G;A,G)
Alt rs33921589(A,G;A,G)
Reference rs33921589(T;T)
Significance Other
Disease HEMOGLOBIN SPARTA HEMOGLOBIN SAINT NAZAIRE
Variation info
Gene HBB
CLNDBN HEMOGLOBIN SPARTA HEMOGLOBIN SAINT NAZAIRE
Reversed 1
HGVS NC_000011.9:g.5247812A>C; NC_000011.9:g.5247812A>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016875.2, RCV000016788.2,


[PMID 8342560] Hb Saint Nazaire (beta 103[G5]Phe-->Ile): a new example of polycythemia due to a hemoglobin variant with increased oxygen affinity.


[PMID 8891722] Abnormal hemoglobins with high oxygen affinity and erythrocytosis.


[PMID 14649314] Three new hemoglobin variants with abnormal oxygen affinity: Hb Saratoga Springs [alpha40(C5)Lys --> Asn (alpha1)], Hb Santa Clara [beta97(FG4)His --> Asn], and Hb Sparta [beta103(G5)Phe --> Val].