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rs34220980

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
(A;G) 3 Alpha-thalassemia allele carrier
Make rs34220980(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position176717
GeneHBA1
is asnp
is mentioned by
dbSNPrs34220980
ebirs34220980
HLIrs34220980
Exacrs34220980
Varsomers34220980
Maprs34220980
PheGenIrs34220980
hapmaprs34220980
1000 genomesrs34220980
hgdprs34220980
ensemblrs34220980
gopubmedrs34220980
geneviewrs34220980
scholarrs34220980
googlers34220980
pharmgkbrs34220980
gwascentralrs34220980
openSNPrs34220980
23andMers34220980
23andMe allrs34220980
SNP Nexus

SNPshotrs34220980
SNPdbers34220980
MSV3drs34220980
GWAS Ctlgrs34220980
Max Magnitude3
OMIM141850
Desc
Variant0022
Relatedalso
ClinVar
Risk rs34220980(G;G)
Alt rs34220980(G;G)
Reference rs34220980(A;A)
Significance Untested
Disease
Variation info
Gene HBA1
CLNDBN
Reversed 0
HGVS NC_000016.9:g.226716A>G
CLNSRC
CLNACC


[PMID 3680504OA-icon.png] An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype.