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rs33927739

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33927739(A;T)
Make rs33927739(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position5226585
GeneHBB
is asnp
is mentioned by
dbSNPrs33927739
ebirs33927739
HLIrs33927739
Exacrs33927739
Varsomers33927739
Maprs33927739
PheGenIrs33927739
hapmaprs33927739
1000 genomesrs33927739
hgdprs33927739
ensemblrs33927739
gopubmedrs33927739
geneviewrs33927739
scholarrs33927739
googlers33927739
pharmgkbrs33927739
gwascentralrs33927739
openSNPrs33927739
23andMers33927739
23andMe allrs33927739
SNP Nexus

SNPshotrs33927739
SNPdbers33927739
MSV3drs33927739
GWAS Ctlgrs33927739
Max Magnitude0
OMIM141900
Desc
Variant0269
Relatedalso


ClinVar
Risk rs33927739(C,T;C,T)
Alt rs33927739(C,T;C,T)
Reference rs33927739(A;A)
Significance Other
Disease HEMOGLOBIN ST. MANDE
Variation info
Gene HBB
CLNDBN HEMOGLOBIN ST. MANDE
Reversed 1
HGVS NC_000011.9:g.5247815T>A
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016603.2,



[PMID 7238856] Hemoglobin Saint Mande beta 102 (G4) asn replaced by tyr: a new low oxygen affinity variant.


[PMID 15377483] Association of HbS and a new low oxygen affinity variant, Hb Canebiere, [beta102(G4)Asn->Lys] in a healthy child.


[PMID 20854124] Further studies on Hb Canebiere [beta12(G4)Asn-->His], a low affinity hemoglobin variant.