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rs33949930

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
(TG;TG) 0 common in clinvar
Make rs33949930(C;C)
Make rs33949930(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5227017
GeneHBB
is asnp
is mentioned by
dbSNPrs33949930
ebirs33949930
HLIrs33949930
Exacrs33949930
Varsomers33949930
Maprs33949930
PheGenIrs33949930
hapmaprs33949930
1000 genomesrs33949930
hgdprs33949930
ensemblrs33949930
gopubmedrs33949930
geneviewrs33949930
scholarrs33949930
googlers33949930
pharmgkbrs33949930
gwascentralrs33949930
openSNPrs33949930
23andMers33949930
23andMe allrs33949930
SNP Nexus

SNPshotrs33949930
SNPdbers33949930
MSV3drs33949930
GWAS Ctlgrs33949930
Merged fromRs121909815, Rs121909830
Max Magnitude0
OMIM141900
Desc
Variant0069
Relatedalso
OMIM141900
Desc
Variant0233
Relatedalso
OMIM141900
Desc
Variant0497
Relatedalso
ClinVar
Risk rs33949930(A,C,G;A,C,G)
Alt rs33949930(A,C,G;A,C,G)
Reference rs33949930(T;T)
Significance Other
Disease HEMOGLOBIN WATFORD HEMOGLOBIN RALEIGH HEMOGLOBIN DOHA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN WATFORD HEMOGLOBIN RALEIGH HEMOGLOBIN DOHA
Reversed 1
HGVS NC_000011.9:g.5248247A>C; NC_000011.9:g.5248247A>G; NC_000011.9:g.5248247A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016854.2, RCV000016563.3, RCV000016327.3,


[PMID 20942] Hemoglobin Raleigh (beta1 valine replaced by acetylalanine). Structural and functional characterization.


[PMID 8226093] Rare beta chain hemoglobin variants found in Swedish patients during HBA1c analysis.


[PMID 9625056] Hemoglobin Raleigh as the cause of a falsely increased hemoglobin A1C in an automated ion-exchange HPLC method.


[PMID 3840039] Hb Doha or alpha 2 beta 2[X-N-Met-1(NA1)Val----Glu]; a new beta-chain abnormal hemoglobin observed in a Qatari female.


[PMID 11186267] Hb Watford [beta1(NA1)Val-->Gly]: a new, clinically silent hemoglobin variant in linkage with a new neutral mutation.


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