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rs34769782

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs34769782(C;C)
Make rs34769782(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position177114
GeneHBA1
is asnp
is mentioned by
dbSNPrs34769782
ebirs34769782
HLIrs34769782
Exacrs34769782
Varsomers34769782
Maprs34769782
PheGenIrs34769782
hapmaprs34769782
1000 genomesrs34769782
hgdprs34769782
ensemblrs34769782
gopubmedrs34769782
geneviewrs34769782
scholarrs34769782
googlers34769782
pharmgkbrs34769782
gwascentralrs34769782
openSNPrs34769782
23andMers34769782
23andMe allrs34769782
SNP Nexus

SNPshotrs34769782
SNPdbers34769782
MSV3drs34769782
GWAS Ctlgrs34769782
Max Magnitude0
OMIM141800
Desc
Variant0210
Relatedalso
ClinVar
Risk rs34769782(C,G;C,G)
Alt rs34769782(C,G;C,G)
Reference rs34769782(T;T)
Significance Other
Disease HEMOGLOBIN DIE
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN DIE
Reversed 0
HGVS NC_000016.9:g.227113T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017229.2,


[PMID 15008266] Two new alpha chain variants: Hb Die [alpha93(FG5)Val --> Ala (alpha1)] and Hb Beziers [alpha99(G6)Lys --> Asn (alpha1)].