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rs34313675

From SNPedia

Orientationminus
Stabilizedminus
Make rs34313675(A;A)
Make rs34313675(A;T)
Make rs34313675(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position5234395
GeneHBD
is asnp
is mentioned by
dbSNPrs34313675
dbSNP (classic)rs34313675
ClinGenrs34313675
ebirs34313675
HLIrs34313675
Exacrs34313675
Gnomadrs34313675
Varsomers34313675
LitVarrs34313675
Maprs34313675
PheGenIrs34313675
Biobankrs34313675
1000 genomesrs34313675
hgdprs34313675
ensemblrs34313675
geneviewrs34313675
scholarrs34313675
googlers34313675
pharmgkbrs34313675
gwascentralrs34313675
openSNPrs34313675
23andMers34313675
SNPshotrs34313675
SNPdbers34313675
MSV3drs34313675
GWAS Ctlgrs34313675
Max Magnitude0
OMIM142000
Desc
Variant0012
Relatedalso


ClinVar
Risk rs34313675(A;A)
Alt rs34313675(A;A)
Reference rs34313675(T;T)
Significance Other
Disease HEMOGLOBIN A(2) NYU HEMOGLOBIN NYU
Variation info
Gene HBD
CLNDBN HEMOGLOBIN A(2) NYU HEMOGLOBIN NYU
Reversed 1
HGVS NC_000011.9:g.5255625A>T
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016199.2, RCV000016200.2,



[PMID 4852213] Haemoglobin A2-NYU in the Netherlands. Incidence of delta-chain variants in human populations.


[PMID 5050942] Hemoglobins A 2 -Sphakia and A 2 -NYU in Canada.


[PMID 5824070OA-icon.png] Hemoglobin NYU, a delta chain variant, alpha 2 delta 2 lys.


[PMID 5956225] Hemoglobin A'2 abnormality associated with thalassemia minor in a Greek woman. Study of a family.