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rs121909803

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Alpha-thalassemia allele carrier
Make rs121909803(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position172913
GeneHBA2
is asnp
is mentioned by
dbSNPrs121909803
ebirs121909803
HLIrs121909803
Exacrs121909803
Varsomers121909803
Maprs121909803
PheGenIrs121909803
hapmaprs121909803
1000 genomesrs121909803
hgdprs121909803
ensemblrs121909803
gopubmedrs121909803
geneviewrs121909803
scholarrs121909803
googlers121909803
pharmgkbrs121909803
gwascentralrs121909803
openSNPrs121909803
23andMers121909803
23andMe allrs121909803
SNP Nexus

SNPshotrs121909803
SNPdbers121909803
MSV3drs121909803
GWAS Ctlgrs121909803
Max Magnitude3
OMIM141850
Desc
Variant0022
Relatedalso
ClinVar
Risk rs121909803(G;G)
Alt rs121909803(G;G)
Reference rs121909803(A;A)
Significance Pathogenic
Disease Hemoglobin H disease
Variation info
Gene HBA2
CLNDBN Hemoglobin H disease, nondeletional
Reversed 0
HGVS NC_000016.9:g.222912A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016931.4,


[PMID 3620699] An alpha-globin gene initiation codon mutation in a black family with HbH disease.