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rs1061009

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs1061009(C;G)
Make rs1061009(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position177103
GeneHBA2
is asnp
is mentioned by
dbSNPrs1061009
ebirs1061009
HLIrs1061009
Exacrs1061009
Varsomers1061009
Maprs1061009
PheGenIrs1061009
hapmaprs1061009
1000 genomesrs1061009
hgdprs1061009
ensemblrs1061009
gopubmedrs1061009
geneviewrs1061009
scholarrs1061009
googlers1061009
pharmgkbrs1061009
gwascentralrs1061009
openSNPrs1061009
23andMers1061009
23andMe allrs1061009
SNP Nexus

SNPshotrs1061009
SNPdbers1061009
MSV3drs1061009
GWAS Ctlgrs1061009
Max Magnitude0
OMIM141800
DescHEMOGLOBIN BUFFALO
Variant0212
Relatedalso
Neighborrs28928887
Distance87
Neighborrs28928889
Distance204
ClinVar
Risk rs1061009(A,G;A,G)
Alt rs1061009(A,G;A,G)
Reference rs1061009(C;C)
Significance Other
Disease HEMOGLOBIN BUFFALO
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN BUFFALO
Reversed 0
HGVS NC_000016.9:g.227102C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017231.2,


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


[PMID 12403494] Three new variants of the alpha1-globin gene without clinical or hematologic effects: Hb Hagerstown [alpha44(CE2)Pro-->Ala (alpha1)]; Hb Buffalo [alpha89(FG1)His-->Gln (alpha1)], a hemoglobin variant from Somalia and Yemen; Hb Wichita [alpha95(G2)Pro-->Gln (alpha1)]; and a second, unrelated, case of Hb Roubaix [alpha55(E4)Val-->Leu (alpha1)].


[PMID 15481890] Hb Buffalo [alpha89(FG1)His-->Gln (alpha1)], observed solely and in the presence of an Hb S [beta6(A3)Glu-->Val] heterozygosity.