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rs33981821

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs33981821(G;G)
Make rs33981821(G;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position172917
GeneHBA2
is asnp
is mentioned by
dbSNPrs33981821
ebirs33981821
HLIrs33981821
Exacrs33981821
Varsomers33981821
Maprs33981821
PheGenIrs33981821
hapmaprs33981821
1000 genomesrs33981821
hgdprs33981821
ensemblrs33981821
gopubmedrs33981821
geneviewrs33981821
scholarrs33981821
googlers33981821
pharmgkbrs33981821
gwascentralrs33981821
openSNPrs33981821
23andMers33981821
23andMe allrs33981821
SNP Nexus

SNPshotrs33981821
SNPdbers33981821
MSV3drs33981821
GWAS Ctlgrs33981821
Max Magnitude0
OMIM141850
Desc
Variant0038
Relatedalso
ClinVar
Risk rs33981821(A,C,G;A,C,G)
Alt rs33981821(A,C,G;A,C,G)
Reference rs33981821(T;T)
Significance Other
Disease HEMOGLOBIN ANTANANARIVO
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN ANTANANARIVO
Reversed 0
HGVS NC_000016.9:g.222916T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016949.2,


[PMID 10081983] Two hemoglobin variants with an alteration of the oxygen-linked chloride binding: Hb Antananarivo [alpha1(NA1)Val-->Gly] and Hb Barbizon [beta144(HC1)Lys-->Met].


[PMID 11891810] New alpha 2 globin chain variant with low oxygen affinity affecting the N-terminal residue and leading to N-acetylation [Hb Lyon-Bron alpha 1(NA1)Val --> Ac-Ala].