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rs34806456

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
(A;G) 3 Alpha-thalassemia allele carrier
(A;T) 3 Alpha-Thalassemia carrier
Make rs34806456(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position177131
GeneHBA1
is asnp
is mentioned by
dbSNPrs34806456
dbSNP (classic)rs34806456
ClinGenrs34806456
ebirs34806456
HLIrs34806456
Exacrs34806456
Gnomadrs34806456
Varsomers34806456
LitVarrs34806456
Maprs34806456
PheGenIrs34806456
Biobankrs34806456
1000 genomesrs34806456
hgdprs34806456
ensemblrs34806456
geneviewrs34806456
scholarrs34806456
googlers34806456
pharmgkbrs34806456
gwascentralrs34806456
openSNPrs34806456
23andMers34806456
SNPshotrs34806456
SNPdbers34806456
MSV3drs34806456
GWAS Ctlgrs34806456
Max Magnitude3
OMIM141800
Desc
Variant0170
Relatedalso
ClinVar
Risk rs34806456(G;G)
Alt rs34806456(G;G)
Reference Rs34806456(A;A)
Significance Other
Disease HEMOGLOBIN TURRIFF
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN TURRIFF
Reversed 0
HGVS NC_000016.9:g.227130A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017190.2,


[PMID 1634357] A new alpha chain variant, Hb Turriff [alpha 99(G6)Lys----Glu]: the interference of abnormal hemoglobins in Hb A1c determination.