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rs33966761

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs33966761(A;A)
Make rs33966761(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225638
GeneHBB
is asnp
is mentioned by
dbSNPrs33966761
ebirs33966761
HLIrs33966761
Exacrs33966761
Varsomers33966761
Maprs33966761
PheGenIrs33966761
hapmaprs33966761
1000 genomesrs33966761
hgdprs33966761
ensemblrs33966761
gopubmedrs33966761
geneviewrs33966761
scholarrs33966761
googlers33966761
pharmgkbrs33966761
gwascentralrs33966761
openSNPrs33966761
23andMers33966761
23andMe allrs33966761
SNP Nexus

SNPshotrs33966761
SNPdbers33966761
MSV3drs33966761
GWAS Ctlgrs33966761
Max Magnitude0
OMIM141900
Desc
Variant0200
Relatedalso
OMIM141900
Desc
Variant0498
Relatedalso
ClinVar
Risk rs33966761(A,C,G;A,C,G)
Alt rs33966761(A,C,G;A,C,G)
Reference rs33966761(T;T)
Significance Other
Disease HEMOGLOBIN YAOUNDE Hemoglobinopathy
Variation info
Gene HBB
CLNDBN HEMOGLOBIN YAOUNDE Hemoglobinopathy
Reversed 1
HGVS NC_000011.9:g.5246868A>G; NC_000011.9:g.5246868A>T
CLNSRC OMIM Allelic Variant HBVAR
CLNACC RCV000016855.2, RCV000016521.3,


[PMID 199272] Haemoglobin North Shore, beta134 Val replaced by Glu, a new unstable haemoglobin.


[PMID 891976] Haemoglobin North Shore-Caracas beta 134 (H12) valine replaced by glutamic acid.


[PMID 3588028] A second Australian family with hemoglobin North Shore (beta 134 Val----Glu).


[PMID 6821704] Hemoglobin North Shore: a variant hemoglobin associated with the phenotype of beta-thalassemia.


[PMID 11300355] Hb Yaounde [beta134(H12)Val-->Ala], a new neutral variant found in association with Hb Kenitra.


[PMID 11523095] Identification and characterization by high-performance liquid chromatography/electrospray ionization mass spectrometry of a new variant hemoglobin, Mataro [beta134(H12) Val > Ala.


[PMID 15481891] Hb Yaounde [beta134(H12)Val-->Ala] in association with Hb C [beta6(A3)Glu-->Lys] in a Caucasian Portuguese family.