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rs34204059

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs34204059(A;A)
Make rs34204059(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position177329
GeneHBA1
is asnp
is mentioned by
dbSNPrs34204059
dbSNP (classic)rs34204059
ClinGenrs34204059
ebirs34204059
HLIrs34204059
Exacrs34204059
Gnomadrs34204059
Varsomers34204059
LitVarrs34204059
Maprs34204059
PheGenIrs34204059
Biobankrs34204059
1000 genomesrs34204059
hgdprs34204059
ensemblrs34204059
geneviewrs34204059
scholarrs34204059
googlers34204059
pharmgkbrs34204059
gwascentralrs34204059
openSNPrs34204059
23andMers34204059
SNPshotrs34204059
SNPdbers34204059
MSV3drs34204059
GWAS Ctlgrs34204059
Merged fromRs63750290
Max Magnitude0
OMIM141800
Desc
Variant0077
Relatedalso


ClinVar
Risk rs34204059(A;A) rs34204059(T;T)
Alt rs34204059(A;A) rs34204059(T;T)
Reference Rs34204059(C;C)
Significance Other
Disease HEMOGLOBIN J (TONGARIKI)
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN J (TONGARIKI)
Reversed 0
HGVS NC_000016.9:g.227328C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017075.2,



[PMID 652041] Haemoglobin J Tongariki is associated with alpha thalassaemia.


[PMID 5427353] Homozygous Hb J Tongariki: evidence for only one alpha chain structural locus in Melanesians.