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rs34802738

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs34802738(C;C)
Make rs34802738(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5233007
GeneHBD
is asnp
is mentioned by
dbSNPrs34802738
ebirs34802738
HLIrs34802738
Exacrs34802738
Varsomers34802738
Maprs34802738
PheGenIrs34802738
hapmaprs34802738
1000 genomesrs34802738
hgdprs34802738
ensemblrs34802738
gopubmedrs34802738
geneviewrs34802738
scholarrs34802738
googlers34802738
pharmgkbrs34802738
gwascentralrs34802738
openSNPrs34802738
23andMers34802738
23andMe allrs34802738
SNP Nexus

SNPshotrs34802738
SNPdbers34802738
MSV3drs34802738
GWAS Ctlgrs34802738
Max Magnitude0
OMIM142000
Desc
Variant0045
Relatedalso


ClinVar
Risk rs34802738(C;C)
Alt rs34802738(C;C)
Reference rs34802738(T;T)
Significance Other
Disease HEMOGLOBIN A(2) NINIVE
Variation info
Gene HBD
CLNDBN HEMOGLOBIN A(2) NINIVE
Reversed 1
HGVS NC_000011.9:g.5254237A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016239.1,



[PMID 15921167] Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala] and a delta(+)-thalassemia mutation [-31 (A --> G)] in the TATA box of the delta-globin gene.