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rs33969727

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33969727(C;G)
Make rs33969727(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226737
GeneHBB
is asnp
is mentioned by
dbSNPrs33969727
ebirs33969727
HLIrs33969727
Exacrs33969727
Varsomers33969727
Maprs33969727
PheGenIrs33969727
hapmaprs33969727
1000 genomesrs33969727
hgdprs33969727
ensemblrs33969727
gopubmedrs33969727
geneviewrs33969727
scholarrs33969727
googlers33969727
pharmgkbrs33969727
gwascentralrs33969727
openSNPrs33969727
23andMers33969727
23andMe allrs33969727
SNP Nexus

SNPshotrs33969727
SNPdbers33969727
MSV3drs33969727
GWAS Ctlgrs33969727
Max Magnitude0
OMIM141900
Desc
Variant0298
Relatedalso
ClinVar
Risk rs33969727(A,G;A,G)
Alt rs33969727(A,G;A,G)
Reference rs33969727(C;C)
Significance Other
Disease HEMOGLOBIN WILLAMETTE
Variation info
Gene HBB
CLNDBN HEMOGLOBIN WILLAMETTE
Reversed 1
HGVS NC_000011.9:g.5247967G>C
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016629.2,


[PMID 6590550] A second family with hemoglobin Willamette.


[PMID 6841127] Oxygen equilibrium studies of Hb Willamette alpha 2 beta (2)51(D2)Pro leads to Arg.


[PMID 9547908] The effect of an unusual haemoglobin variant (beta 51Pro-->His) on haemoglobin A1c measurement.


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