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rs33937393

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33937393(A;G)
Make rs33937393(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position5226587
GeneHBB
is asnp
is mentioned by
dbSNPrs33937393
ebirs33937393
HLIrs33937393
Exacrs33937393
Varsomers33937393
Maprs33937393
PheGenIrs33937393
hapmaprs33937393
1000 genomesrs33937393
hgdprs33937393
ensemblrs33937393
gopubmedrs33937393
geneviewrs33937393
scholarrs33937393
googlers33937393
pharmgkbrs33937393
gwascentralrs33937393
openSNPrs33937393
23andMers33937393
23andMe allrs33937393
SNP Nexus

SNPshotrs33937393
SNPdbers33937393
MSV3drs33937393
GWAS Ctlgrs33937393
Max Magnitude0
OMIM141900
Desc
Variant0006
Relatedalso


ClinVar
Risk rs33937393(C,G;C,G)
Alt rs33937393(C,G;C,G)
Reference rs33937393(A;A)
Significance Other
Disease HEMOGLOBIN ALBERTA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN ALBERTA
Reversed 1
HGVS NC_000011.9:g.5247817T>C
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016247.2,



[PMID 750556] A second patient with hemoglobin Alberta, a high-oxygen-affinity variant causing erythrocytosis and forming asymmetric tetramers.


[PMID 903694] Isoelectric focusing studies of a "stable" asymmetrical hybrid formed with a new hemoglobin variant, hemoglobin alberta (alpha2beta2101(G3)Glu leads to Gly).


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