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rs34889882

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 5.5 Beta Thalassemia major; Hemoglobin beta-zero; possibly transfusion dependent
(-;CT) 3 Beta Thalassemia carrier; Hemoglobin beta-zero mutation; anemia possible
(CT;CT) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome11
Position5227004
GeneHBB
is asnp
is mentioned by
dbSNPrs34889882
dbSNP (old)rs34889882
ClinGenrs34889882
ebirs34889882
HLIrs34889882
Exacrs34889882
Varsomers34889882
Maprs34889882
PheGenIrs34889882
Biobankrs34889882
1000 genomesrs34889882
hgdprs34889882
ensemblrs34889882
gopubmedrs34889882
geneviewrs34889882
scholarrs34889882
googlers34889882
pharmgkbrs34889882
gwascentralrs34889882
openSNPrs34889882
23andMers34889882
23andMe allrs34889882
SNP Nexus

SNPshotrs34889882
SNPdbers34889882
MSV3drs34889882
GWAS Ctlgrs34889882
Max Magnitude5.5
ClinVar
Risk Rs34889882(-;-)
Alt Rs34889882(-;-)
Reference Rs34889882(CT;CT)
Significance Pathogenic
Disease beta^0^ Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248234_5248235delAG
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016678.26,